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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs7553399

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:3499885 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.410458 (108644/264690, TOPMED)
C=0.285040 (50700/177870, ALFA)
C=0.327698 (52937/161542, GnomAD_exome) (+ 19 more)
C=0.27716 (8230/29694, ExAC)
C=0.44897 (12686/28256, 14KJPN)
C=0.44886 (7522/16758, 8.3KJPN)
C=0.36258 (4430/12218, GO-ESP)
C=0.4408 (2823/6404, 1000G_30x)
C=0.4317 (2162/5008, 1000G)
C=0.2283 (1023/4480, Estonian)
C=0.2579 (994/3854, ALSPAC)
C=0.2522 (935/3708, TWINSUK)
A=0.4686 (1372/2928, KOREAN)
A=0.4601 (841/1828, Korea1K)
C=0.268 (267/998, GoNL)
C=0.210 (126/600, NorthernSweden)
A=0.367 (220/600, Vietnamese)
C=0.281 (123/438, SGDP_PRJ)
C=0.478 (154/322, HapMap)
C=0.213 (46/216, Qatari)
C=0.22 (11/50, Siberian)
C=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MEGF6 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 177992 C=0.285041 A=0.714959, T=0.000000
European Sub 147222 C=0.259920 A=0.740080, T=0.000000
African Sub 4352 C=0.6836 A=0.3164, T=0.0000
African Others Sub 150 C=0.793 A=0.207, T=0.000
African American Sub 4202 C=0.6797 A=0.3203, T=0.0000
Asian Sub 3388 C=0.5806 A=0.4194, T=0.0000
East Asian Sub 2114 C=0.5828 A=0.4172, T=0.0000
Other Asian Sub 1274 C=0.5769 A=0.4231, T=0.0000
Latin American 1 Sub 814 C=0.488 A=0.512, T=0.000
Latin American 2 Sub 4340 C=0.3922 A=0.6078, T=0.0000
South Asian Sub 72 C=0.26 A=0.74, T=0.00
Other Sub 17804 C=0.30381 A=0.69619, T=0.00000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.410458 A=0.589542
Allele Frequency Aggregator Total Global 177870 C=0.285040 A=0.714960, T=0.000000
Allele Frequency Aggregator European Sub 147118 C=0.259941 A=0.740059, T=0.000000
Allele Frequency Aggregator Other Sub 17800 C=0.30376 A=0.69624, T=0.00000
Allele Frequency Aggregator Latin American 2 Sub 4340 C=0.3922 A=0.6078, T=0.0000
Allele Frequency Aggregator African Sub 4338 C=0.6837 A=0.3163, T=0.0000
Allele Frequency Aggregator Asian Sub 3388 C=0.5806 A=0.4194, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 814 C=0.488 A=0.512, T=0.000
Allele Frequency Aggregator South Asian Sub 72 C=0.26 A=0.74, T=0.00
gnomAD - Exomes Global Study-wide 161542 C=0.327698 A=0.672302
gnomAD - Exomes European Sub 77882 C=0.26283 A=0.73717
gnomAD - Exomes Asian Sub 35762 C=0.34674 A=0.65326
gnomAD - Exomes American Sub 26578 C=0.42174 A=0.57826
gnomAD - Exomes Ashkenazi Jewish Sub 8428 C=0.2340 A=0.7660
gnomAD - Exomes African Sub 8412 C=0.6629 A=0.3371
gnomAD - Exomes Other Sub 4480 C=0.2924 A=0.7076
ExAC Global Study-wide 29694 C=0.27716 A=0.72284
ExAC Europe Sub 15434 C=0.24770 A=0.75230
ExAC Asian Sub 10130 C=0.25607 A=0.74393
ExAC American Sub 2000 C=0.3805 A=0.6195
ExAC African Sub 1872 C=0.5294 A=0.4706
ExAC Other Sub 258 C=0.236 A=0.764
14KJPN JAPANESE Study-wide 28256 C=0.44897 A=0.55103
8.3KJPN JAPANESE Study-wide 16758 C=0.44886 A=0.55114
GO Exome Sequencing Project Global Study-wide 12218 C=0.36258 A=0.63742
GO Exome Sequencing Project European American Sub 8222 C=0.2519 A=0.7481
GO Exome Sequencing Project African American Sub 3996 C=0.5903 A=0.4097
1000Genomes_30x Global Study-wide 6404 C=0.4408 A=0.5592
1000Genomes_30x African Sub 1786 C=0.6909 A=0.3091
1000Genomes_30x Europe Sub 1266 C=0.2615 A=0.7385
1000Genomes_30x South Asian Sub 1202 C=0.2063 A=0.7937
1000Genomes_30x East Asian Sub 1170 C=0.5709 A=0.4291
1000Genomes_30x American Sub 980 C=0.349 A=0.651
1000Genomes Global Study-wide 5008 C=0.4317 A=0.5683
1000Genomes African Sub 1322 C=0.6823 A=0.3177
1000Genomes East Asian Sub 1008 C=0.5645 A=0.4355
1000Genomes Europe Sub 1006 C=0.2485 A=0.7515
1000Genomes South Asian Sub 978 C=0.207 A=0.793
1000Genomes American Sub 694 C=0.344 A=0.656
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2283 A=0.7717
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2579 A=0.7421
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2522 A=0.7478
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.5314 A=0.4686, G=0.0000
Korean Genome Project KOREAN Study-wide 1828 C=0.5399 A=0.4601
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.268 A=0.732
Northern Sweden ACPOP Study-wide 600 C=0.210 A=0.790
A Vietnamese Genetic Variation Database Global Study-wide 600 C=0.633 A=0.367
SGDP_PRJ Global Study-wide 438 C=0.281 A=0.719
HapMap Global Study-wide 322 C=0.478 A=0.522
HapMap African Sub 118 C=0.686 A=0.314
HapMap American Sub 116 C=0.276 A=0.724
HapMap Asian Sub 88 C=0.47 A=0.53
Qatari Global Study-wide 216 C=0.213 A=0.787
Siberian Global Study-wide 50 C=0.22 A=0.78
The Danish reference pan genome Danish Study-wide 40 C=0.30 A=0.70
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.3499885C>A
GRCh38.p14 chr 1 NC_000001.11:g.3499885C>G
GRCh38.p14 chr 1 NC_000001.11:g.3499885C>T
GRCh37.p13 chr 1 NC_000001.10:g.3416449C>A
GRCh37.p13 chr 1 NC_000001.10:g.3416449C>G
GRCh37.p13 chr 1 NC_000001.10:g.3416449C>T
Gene: MEGF6, multiple EGF like domains 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MEGF6 transcript variant 1 NM_001409.4:c.2747G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform 1 precursor NP_001400.3:p.Arg916Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant 1 NM_001409.4:c.2747G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform 1 precursor NP_001400.3:p.Arg916Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant 1 NM_001409.4:c.2747G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform 1 precursor NP_001400.3:p.Arg916Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X1 XM_011540886.3:c.2933G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X1 XP_011539188.1:p.Arg978Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X1 XM_011540886.3:c.2933G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X1 XP_011539188.1:p.Arg978Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X1 XM_011540886.3:c.2933G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X1 XP_011539188.1:p.Arg978Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X2 XM_017000533.3:c.2801G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X2 XP_016856022.1:p.Arg934Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X2 XM_017000533.3:c.2801G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X2 XP_016856022.1:p.Arg934Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X2 XM_017000533.3:c.2801G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X2 XP_016856022.1:p.Arg934Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X3 XM_047448204.1:c.2624G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X3 XP_047304160.1:p.Arg875Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X3 XM_047448204.1:c.2624G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X3 XP_047304160.1:p.Arg875Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X3 XM_047448204.1:c.2624G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X3 XP_047304160.1:p.Arg875Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X4 XM_047448205.1:c.2747G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X4 XP_047304161.1:p.Arg916Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X4 XM_047448205.1:c.2747G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X4 XP_047304161.1:p.Arg916Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X4 XM_047448205.1:c.2747G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X4 XP_047304161.1:p.Arg916Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X5 XM_047448215.1:c.2747G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X5 XP_047304171.1:p.Arg916Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X5 XM_047448215.1:c.2747G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X5 XP_047304171.1:p.Arg916Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X5 XM_047448215.1:c.2747G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X5 XP_047304171.1:p.Arg916Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X6 XM_047448217.1:c.2624G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X6 XP_047304173.1:p.Arg875Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X6 XM_047448217.1:c.2624G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X6 XP_047304173.1:p.Arg875Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X6 XM_047448217.1:c.2624G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X6 XP_047304173.1:p.Arg875Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X7 XM_047448220.1:c.2624G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X7 XP_047304176.1:p.Arg875Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X7 XM_047448220.1:c.2624G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X7 XP_047304176.1:p.Arg875Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X7 XM_047448220.1:c.2624G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X7 XP_047304176.1:p.Arg875Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X8 XM_047448221.1:c.2747G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X8 XP_047304177.1:p.Arg916Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X8 XM_047448221.1:c.2747G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X8 XP_047304177.1:p.Arg916Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X8 XM_047448221.1:c.2747G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X8 XP_047304177.1:p.Arg916Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X9 XM_047448228.1:c.2615G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X9 XP_047304184.1:p.Arg872Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X9 XM_047448228.1:c.2615G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X9 XP_047304184.1:p.Arg872Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X9 XM_047448228.1:c.2615G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X9 XP_047304184.1:p.Arg872Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X10 XM_006710406.5:c.2432G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_006710469.1:p.Arg811Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X10 XM_006710406.5:c.2432G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_006710469.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X10 XM_006710406.5:c.2432G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_006710469.1:p.Arg811Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X10 XM_047448229.1:c.2624G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_047304185.1:p.Arg875Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X10 XM_047448229.1:c.2624G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_047304185.1:p.Arg875Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X10 XM_047448229.1:c.2624G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_047304185.1:p.Arg875Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X11 XM_047448232.1:c.2615G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X11 XP_047304188.1:p.Arg872Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X11 XM_047448232.1:c.2615G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X11 XP_047304188.1:p.Arg872Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X11 XM_047448232.1:c.2615G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X11 XP_047304188.1:p.Arg872Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X12 XM_011540887.3:c.2309G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X12 XP_011539189.1:p.Arg770Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X12 XM_011540887.3:c.2309G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X12 XP_011539189.1:p.Arg770Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X12 XM_011540887.3:c.2309G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X12 XP_011539189.1:p.Arg770Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X13 XM_047448238.1:c.2432G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X13 XP_047304194.1:p.Arg811Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X13 XM_047448238.1:c.2432G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X13 XP_047304194.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X13 XM_047448238.1:c.2432G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X13 XP_047304194.1:p.Arg811Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X14 XM_047448239.1:c.2432G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X14 XP_047304195.1:p.Arg811Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X14 XM_047448239.1:c.2432G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X14 XP_047304195.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X14 XM_047448239.1:c.2432G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X14 XP_047304195.1:p.Arg811Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X15 XM_011540888.4:c.2933G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X15 XP_011539190.1:p.Arg978Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X15 XM_011540888.4:c.2933G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X15 XP_011539190.1:p.Arg978Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X15 XM_011540888.4:c.2933G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X15 XP_011539190.1:p.Arg978Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X16 XM_047448242.1:c.2309G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X16 XP_047304198.1:p.Arg770Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X16 XM_047448242.1:c.2309G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X16 XP_047304198.1:p.Arg770Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X16 XM_047448242.1:c.2309G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X16 XP_047304198.1:p.Arg770Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X17 XM_047448245.1:c.2432G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X17 XP_047304201.1:p.Arg811Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X17 XM_047448245.1:c.2432G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X17 XP_047304201.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X17 XM_047448245.1:c.2432G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X17 XP_047304201.1:p.Arg811Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X18 XM_047448247.1:c.2432G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X18 XP_047304203.1:p.Arg811Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X18 XM_047448247.1:c.2432G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X18 XP_047304203.1:p.Arg811Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X18 XM_047448247.1:c.2432G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X18 XP_047304203.1:p.Arg811Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X19 XM_047448251.1:c.2309G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X19 XP_047304207.1:p.Arg770Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X19 XM_047448251.1:c.2309G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X19 XP_047304207.1:p.Arg770Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X19 XM_047448251.1:c.2309G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X19 XP_047304207.1:p.Arg770Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X20 XM_047448255.1:c.2300G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X20 XP_047304211.1:p.Arg767Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X20 XM_047448255.1:c.2300G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X20 XP_047304211.1:p.Arg767Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X20 XM_047448255.1:c.2300G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X20 XP_047304211.1:p.Arg767Gln R (Arg) > Q (Gln) Missense Variant
MEGF6 transcript variant X21 XM_047448256.1:c.1982G>T R [CGG] > L [CTG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X21 XP_047304212.1:p.Arg661Leu R (Arg) > L (Leu) Missense Variant
MEGF6 transcript variant X21 XM_047448256.1:c.1982G>C R [CGG] > P [CCG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X21 XP_047304212.1:p.Arg661Pro R (Arg) > P (Pro) Missense Variant
MEGF6 transcript variant X21 XM_047448256.1:c.1982G>A R [CGG] > Q [CAG] Coding Sequence Variant
multiple epidermal growth factor-like domains protein 6 isoform X21 XP_047304212.1:p.Arg661Gln R (Arg) > Q (Gln) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A G T
GRCh38.p14 chr 1 NC_000001.11:g.3499885= NC_000001.11:g.3499885C>A NC_000001.11:g.3499885C>G NC_000001.11:g.3499885C>T
GRCh37.p13 chr 1 NC_000001.10:g.3416449= NC_000001.10:g.3416449C>A NC_000001.10:g.3416449C>G NC_000001.10:g.3416449C>T
MEGF6 transcript variant X10 XM_006710406.5:c.2432= XM_006710406.5:c.2432G>T XM_006710406.5:c.2432G>C XM_006710406.5:c.2432G>A
MEGF6 transcript variant 1 NM_001409.4:c.2747= NM_001409.4:c.2747G>T NM_001409.4:c.2747G>C NM_001409.4:c.2747G>A
MEGF6 transcript NM_001409.3:c.2747= NM_001409.3:c.2747G>T NM_001409.3:c.2747G>C NM_001409.3:c.2747G>A
MEGF6 transcript variant X15 XM_011540888.4:c.2933= XM_011540888.4:c.2933G>T XM_011540888.4:c.2933G>C XM_011540888.4:c.2933G>A
MEGF6 transcript variant X6 XM_011540888.3:c.2933= XM_011540888.3:c.2933G>T XM_011540888.3:c.2933G>C XM_011540888.3:c.2933G>A
MEGF6 transcript variant X6 XM_011540888.2:c.2933= XM_011540888.2:c.2933G>T XM_011540888.2:c.2933G>C XM_011540888.2:c.2933G>A
MEGF6 transcript variant X5 XM_011540888.1:c.2933= XM_011540888.1:c.2933G>T XM_011540888.1:c.2933G>C XM_011540888.1:c.2933G>A
MEGF6 transcript variant X1 XM_011540886.3:c.2933= XM_011540886.3:c.2933G>T XM_011540886.3:c.2933G>C XM_011540886.3:c.2933G>A
MEGF6 transcript variant X2 XM_011540886.2:c.2933= XM_011540886.2:c.2933G>T XM_011540886.2:c.2933G>C XM_011540886.2:c.2933G>A
MEGF6 transcript variant X2 XM_011540886.1:c.2933= XM_011540886.1:c.2933G>T XM_011540886.1:c.2933G>C XM_011540886.1:c.2933G>A
MEGF6 transcript variant X2 XM_017000533.3:c.2801= XM_017000533.3:c.2801G>T XM_017000533.3:c.2801G>C XM_017000533.3:c.2801G>A
MEGF6 transcript variant X3 XM_017000533.2:c.2801= XM_017000533.2:c.2801G>T XM_017000533.2:c.2801G>C XM_017000533.2:c.2801G>A
MEGF6 transcript variant X3 XM_017000533.1:c.2801= XM_017000533.1:c.2801G>T XM_017000533.1:c.2801G>C XM_017000533.1:c.2801G>A
MEGF6 transcript variant X12 XM_011540887.3:c.2309= XM_011540887.3:c.2309G>T XM_011540887.3:c.2309G>C XM_011540887.3:c.2309G>A
MEGF6 transcript variant X5 XM_011540887.2:c.2309= XM_011540887.2:c.2309G>T XM_011540887.2:c.2309G>C XM_011540887.2:c.2309G>A
MEGF6 transcript variant X4 XM_011540887.1:c.2309= XM_011540887.1:c.2309G>T XM_011540887.1:c.2309G>C XM_011540887.1:c.2309G>A
MEGF6 transcript variant X21 XM_047448256.1:c.1982= XM_047448256.1:c.1982G>T XM_047448256.1:c.1982G>C XM_047448256.1:c.1982G>A
MEGF6 transcript variant X3 XM_047448204.1:c.2624= XM_047448204.1:c.2624G>T XM_047448204.1:c.2624G>C XM_047448204.1:c.2624G>A
MEGF6 transcript variant X4 XM_047448205.1:c.2747= XM_047448205.1:c.2747G>T XM_047448205.1:c.2747G>C XM_047448205.1:c.2747G>A
MEGF6 transcript variant X5 XM_047448215.1:c.2747= XM_047448215.1:c.2747G>T XM_047448215.1:c.2747G>C XM_047448215.1:c.2747G>A
MEGF6 transcript variant X6 XM_047448217.1:c.2624= XM_047448217.1:c.2624G>T XM_047448217.1:c.2624G>C XM_047448217.1:c.2624G>A
MEGF6 transcript variant X7 XM_047448220.1:c.2624= XM_047448220.1:c.2624G>T XM_047448220.1:c.2624G>C XM_047448220.1:c.2624G>A
MEGF6 transcript variant X8 XM_047448221.1:c.2747= XM_047448221.1:c.2747G>T XM_047448221.1:c.2747G>C XM_047448221.1:c.2747G>A
MEGF6 transcript variant X9 XM_047448228.1:c.2615= XM_047448228.1:c.2615G>T XM_047448228.1:c.2615G>C XM_047448228.1:c.2615G>A
MEGF6 transcript variant X10 XM_047448229.1:c.2624= XM_047448229.1:c.2624G>T XM_047448229.1:c.2624G>C XM_047448229.1:c.2624G>A
MEGF6 transcript variant 2 NM_001410718.1:c.2432= NM_001410718.1:c.2432G>T NM_001410718.1:c.2432G>C NM_001410718.1:c.2432G>A
MEGF6 transcript variant X11 XM_047448232.1:c.2615= XM_047448232.1:c.2615G>T XM_047448232.1:c.2615G>C XM_047448232.1:c.2615G>A
MEGF6 transcript variant X13 XM_047448238.1:c.2432= XM_047448238.1:c.2432G>T XM_047448238.1:c.2432G>C XM_047448238.1:c.2432G>A
MEGF6 transcript variant X14 XM_047448239.1:c.2432= XM_047448239.1:c.2432G>T XM_047448239.1:c.2432G>C XM_047448239.1:c.2432G>A
MEGF6 transcript variant X16 XM_047448242.1:c.2309= XM_047448242.1:c.2309G>T XM_047448242.1:c.2309G>C XM_047448242.1:c.2309G>A
MEGF6 transcript variant X18 XM_047448247.1:c.2432= XM_047448247.1:c.2432G>T XM_047448247.1:c.2432G>C XM_047448247.1:c.2432G>A
MEGF6 transcript variant X17 XM_047448245.1:c.2432= XM_047448245.1:c.2432G>T XM_047448245.1:c.2432G>C XM_047448245.1:c.2432G>A
MEGF6 transcript variant X19 XM_047448251.1:c.2309= XM_047448251.1:c.2309G>T XM_047448251.1:c.2309G>C XM_047448251.1:c.2309G>A
MEGF6 transcript variant X20 XM_047448255.1:c.2300= XM_047448255.1:c.2300G>T XM_047448255.1:c.2300G>C XM_047448255.1:c.2300G>A
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_006710469.1:p.Arg811= XP_006710469.1:p.Arg811Leu XP_006710469.1:p.Arg811Pro XP_006710469.1:p.Arg811Gln
multiple epidermal growth factor-like domains protein 6 isoform 1 precursor NP_001400.3:p.Arg916= NP_001400.3:p.Arg916Leu NP_001400.3:p.Arg916Pro NP_001400.3:p.Arg916Gln
multiple epidermal growth factor-like domains protein 6 isoform X15 XP_011539190.1:p.Arg978= XP_011539190.1:p.Arg978Leu XP_011539190.1:p.Arg978Pro XP_011539190.1:p.Arg978Gln
multiple epidermal growth factor-like domains protein 6 isoform X1 XP_011539188.1:p.Arg978= XP_011539188.1:p.Arg978Leu XP_011539188.1:p.Arg978Pro XP_011539188.1:p.Arg978Gln
multiple epidermal growth factor-like domains protein 6 isoform X2 XP_016856022.1:p.Arg934= XP_016856022.1:p.Arg934Leu XP_016856022.1:p.Arg934Pro XP_016856022.1:p.Arg934Gln
multiple epidermal growth factor-like domains protein 6 isoform X12 XP_011539189.1:p.Arg770= XP_011539189.1:p.Arg770Leu XP_011539189.1:p.Arg770Pro XP_011539189.1:p.Arg770Gln
multiple epidermal growth factor-like domains protein 6 isoform X21 XP_047304212.1:p.Arg661= XP_047304212.1:p.Arg661Leu XP_047304212.1:p.Arg661Pro XP_047304212.1:p.Arg661Gln
multiple epidermal growth factor-like domains protein 6 isoform X3 XP_047304160.1:p.Arg875= XP_047304160.1:p.Arg875Leu XP_047304160.1:p.Arg875Pro XP_047304160.1:p.Arg875Gln
multiple epidermal growth factor-like domains protein 6 isoform X4 XP_047304161.1:p.Arg916= XP_047304161.1:p.Arg916Leu XP_047304161.1:p.Arg916Pro XP_047304161.1:p.Arg916Gln
multiple epidermal growth factor-like domains protein 6 isoform X5 XP_047304171.1:p.Arg916= XP_047304171.1:p.Arg916Leu XP_047304171.1:p.Arg916Pro XP_047304171.1:p.Arg916Gln
multiple epidermal growth factor-like domains protein 6 isoform X6 XP_047304173.1:p.Arg875= XP_047304173.1:p.Arg875Leu XP_047304173.1:p.Arg875Pro XP_047304173.1:p.Arg875Gln
multiple epidermal growth factor-like domains protein 6 isoform X7 XP_047304176.1:p.Arg875= XP_047304176.1:p.Arg875Leu XP_047304176.1:p.Arg875Pro XP_047304176.1:p.Arg875Gln
multiple epidermal growth factor-like domains protein 6 isoform X8 XP_047304177.1:p.Arg916= XP_047304177.1:p.Arg916Leu XP_047304177.1:p.Arg916Pro XP_047304177.1:p.Arg916Gln
multiple epidermal growth factor-like domains protein 6 isoform X9 XP_047304184.1:p.Arg872= XP_047304184.1:p.Arg872Leu XP_047304184.1:p.Arg872Pro XP_047304184.1:p.Arg872Gln
multiple epidermal growth factor-like domains protein 6 isoform X10 XP_047304185.1:p.Arg875= XP_047304185.1:p.Arg875Leu XP_047304185.1:p.Arg875Pro XP_047304185.1:p.Arg875Gln
multiple epidermal growth factor-like domains protein 6 isoform X11 XP_047304188.1:p.Arg872= XP_047304188.1:p.Arg872Leu XP_047304188.1:p.Arg872Pro XP_047304188.1:p.Arg872Gln
multiple epidermal growth factor-like domains protein 6 isoform X13 XP_047304194.1:p.Arg811= XP_047304194.1:p.Arg811Leu XP_047304194.1:p.Arg811Pro XP_047304194.1:p.Arg811Gln
multiple epidermal growth factor-like domains protein 6 isoform X14 XP_047304195.1:p.Arg811= XP_047304195.1:p.Arg811Leu XP_047304195.1:p.Arg811Pro XP_047304195.1:p.Arg811Gln
multiple epidermal growth factor-like domains protein 6 isoform X16 XP_047304198.1:p.Arg770= XP_047304198.1:p.Arg770Leu XP_047304198.1:p.Arg770Pro XP_047304198.1:p.Arg770Gln
multiple epidermal growth factor-like domains protein 6 isoform X18 XP_047304203.1:p.Arg811= XP_047304203.1:p.Arg811Leu XP_047304203.1:p.Arg811Pro XP_047304203.1:p.Arg811Gln
multiple epidermal growth factor-like domains protein 6 isoform X17 XP_047304201.1:p.Arg811= XP_047304201.1:p.Arg811Leu XP_047304201.1:p.Arg811Pro XP_047304201.1:p.Arg811Gln
multiple epidermal growth factor-like domains protein 6 isoform X19 XP_047304207.1:p.Arg770= XP_047304207.1:p.Arg770Leu XP_047304207.1:p.Arg770Pro XP_047304207.1:p.Arg770Gln
multiple epidermal growth factor-like domains protein 6 isoform X20 XP_047304211.1:p.Arg767= XP_047304211.1:p.Arg767Leu XP_047304211.1:p.Arg767Pro XP_047304211.1:p.Arg767Gln
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

142 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11425617 Jul 11, 2003 (116)
2 SSAHASNP ss20586895 Apr 05, 2004 (121)
3 ILLUMINA ss65731997 Oct 16, 2006 (127)
4 SI_EXO ss76896676 Dec 07, 2007 (129)
5 HGSV ss80226161 Dec 16, 2007 (130)
6 CORNELL ss86252838 Mar 23, 2008 (129)
7 BCMHGSC_JDW ss87172335 Mar 23, 2008 (129)
8 HUMANGENOME_JCVI ss97915247 Feb 06, 2009 (130)
9 BGI ss105114513 Dec 01, 2009 (131)
10 ENSEMBL ss137762341 Dec 01, 2009 (131)
11 ENSEMBL ss138976721 Dec 01, 2009 (131)
12 SEATTLESEQ ss159695816 Dec 01, 2009 (131)
13 ILLUMINA ss160887745 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss163002241 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss163733170 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss166005318 Jul 04, 2010 (132)
17 BUSHMAN ss197920447 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss205559397 Jul 04, 2010 (132)
19 1000GENOMES ss210454300 Jul 14, 2010 (132)
20 1000GENOMES ss218201609 Jul 14, 2010 (132)
21 1000GENOMES ss230402995 Jul 14, 2010 (132)
22 1000GENOMES ss238121973 Jul 15, 2010 (132)
23 BL ss252878449 May 09, 2011 (134)
24 GMI ss275690488 May 04, 2012 (137)
25 GMI ss283990623 Apr 25, 2013 (138)
26 PJP ss290497799 May 09, 2011 (134)
27 ILLUMINA ss481592195 May 04, 2012 (137)
28 ILLUMINA ss481622179 May 04, 2012 (137)
29 ILLUMINA ss482592043 Sep 08, 2015 (146)
30 ILLUMINA ss485591040 May 04, 2012 (137)
31 1000GENOMES ss489716224 May 04, 2012 (137)
32 EXOME_CHIP ss491284914 May 04, 2012 (137)
33 TISHKOFF ss553731623 Apr 25, 2013 (138)
34 SSMP ss647534253 Apr 25, 2013 (138)
35 NHLBI-ESP ss712266349 Apr 25, 2013 (138)
36 ILLUMINA ss780869122 Sep 08, 2015 (146)
37 ILLUMINA ss783241117 Sep 08, 2015 (146)
38 ILLUMINA ss783554132 Sep 08, 2015 (146)
39 ILLUMINA ss832501695 Sep 08, 2015 (146)
40 JMKIDD_LAB ss974432735 Aug 21, 2014 (142)
41 EVA-GONL ss974793216 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1067415098 Aug 21, 2014 (142)
43 1000GENOMES ss1289439702 Aug 21, 2014 (142)
44 DDI ss1425692019 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1573858969 Apr 01, 2015 (144)
46 EVA_DECODE ss1584152362 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1599421582 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1642415615 Apr 01, 2015 (144)
49 EVA_EXAC ss1685258593 Apr 01, 2015 (144)
50 ILLUMINA ss1751916474 Sep 08, 2015 (146)
51 ILLUMINA ss1751916475 Sep 08, 2015 (146)
52 HAMMER_LAB ss1793779232 Sep 08, 2015 (146)
53 ILLUMINA ss1917721593 Feb 12, 2016 (147)
54 WEILL_CORNELL_DGM ss1917988517 Feb 12, 2016 (147)
55 ILLUMINA ss1945982645 Feb 12, 2016 (147)
56 ILLUMINA ss1945982646 Feb 12, 2016 (147)
57 ILLUMINA ss1958234243 Feb 12, 2016 (147)
58 ILLUMINA ss1958234244 Feb 12, 2016 (147)
59 JJLAB ss2019510437 Sep 14, 2016 (149)
60 USC_VALOUEV ss2147500708 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2159550407 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2624271045 Nov 08, 2017 (151)
63 ILLUMINA ss2632468226 Nov 08, 2017 (151)
64 GRF ss2697394489 Nov 08, 2017 (151)
65 ILLUMINA ss2710661263 Nov 08, 2017 (151)
66 GNOMAD ss2731052132 Nov 08, 2017 (151)
67 GNOMAD ss2746193521 Nov 08, 2017 (151)
68 GNOMAD ss2750940517 Nov 08, 2017 (151)
69 AFFY ss2984842408 Nov 08, 2017 (151)
70 SWEGEN ss2986196730 Nov 08, 2017 (151)
71 ILLUMINA ss3021047160 Nov 08, 2017 (151)
72 ILLUMINA ss3021047161 Nov 08, 2017 (151)
73 EVA_SAMSUNG_MC ss3023056123 Nov 08, 2017 (151)
74 BIOINF_KMB_FNS_UNIBA ss3023518873 Nov 08, 2017 (151)
75 CSHL ss3343287343 Nov 08, 2017 (151)
76 ILLUMINA ss3625523817 Oct 11, 2018 (152)
77 ILLUMINA ss3633572074 Oct 11, 2018 (152)
78 ILLUMINA ss3634303271 Oct 11, 2018 (152)
79 ILLUMINA ss3634303272 Oct 11, 2018 (152)
80 ILLUMINA ss3635266255 Oct 11, 2018 (152)
81 ILLUMINA ss3635979626 Oct 11, 2018 (152)
82 ILLUMINA ss3637016604 Oct 11, 2018 (152)
83 ILLUMINA ss3640010636 Oct 11, 2018 (152)
84 ILLUMINA ss3640010637 Oct 11, 2018 (152)
85 ILLUMINA ss3644478506 Oct 11, 2018 (152)
86 ILLUMINA ss3644478507 Oct 11, 2018 (152)
87 OMUKHERJEE_ADBS ss3646220062 Oct 11, 2018 (152)
88 URBANLAB ss3646586179 Oct 11, 2018 (152)
89 ILLUMINA ss3651369796 Oct 11, 2018 (152)
90 ILLUMINA ss3651369797 Oct 11, 2018 (152)
91 ILLUMINA ss3653616203 Oct 11, 2018 (152)
92 EGCUT_WGS ss3654297784 Jul 12, 2019 (153)
93 EVA_DECODE ss3686041463 Jul 12, 2019 (153)
94 ACPOP ss3726737461 Jul 12, 2019 (153)
95 ILLUMINA ss3744041003 Jul 12, 2019 (153)
96 ILLUMINA ss3744338029 Jul 12, 2019 (153)
97 ILLUMINA ss3744604268 Jul 12, 2019 (153)
98 ILLUMINA ss3744604269 Jul 12, 2019 (153)
99 EVA ss3745751343 Jul 12, 2019 (153)
100 ILLUMINA ss3772105923 Jul 12, 2019 (153)
101 ILLUMINA ss3772105924 Jul 12, 2019 (153)
102 PACBIO ss3783308119 Jul 12, 2019 (153)
103 PACBIO ss3788985048 Jul 12, 2019 (153)
104 PACBIO ss3793857687 Jul 12, 2019 (153)
105 KHV_HUMAN_GENOMES ss3798773156 Jul 12, 2019 (153)
106 EVA ss3823549875 Apr 25, 2020 (154)
107 EVA ss3825517484 Apr 25, 2020 (154)
108 EVA ss3825534724 Apr 25, 2020 (154)
109 EVA ss3825551045 Apr 25, 2020 (154)
110 EVA ss3825992619 Apr 25, 2020 (154)
111 SGDP_PRJ ss3848062550 Apr 25, 2020 (154)
112 KRGDB ss3892923201 Apr 25, 2020 (154)
113 KOGIC ss3943685877 Apr 25, 2020 (154)
114 FSA-LAB ss3983912804 Apr 25, 2021 (155)
115 FSA-LAB ss3983912805 Apr 25, 2021 (155)
116 EVA ss3986094880 Apr 25, 2021 (155)
117 EVA ss4016889969 Apr 25, 2021 (155)
118 TOPMED ss4437214768 Apr 25, 2021 (155)
119 TOMMO_GENOMICS ss5142188257 Apr 25, 2021 (155)
120 EVA ss5236863296 Apr 25, 2021 (155)
121 EVA ss5237158736 Apr 25, 2021 (155)
122 1000G_HIGH_COVERAGE ss5240957538 Oct 12, 2022 (156)
123 EVA ss5316353826 Oct 12, 2022 (156)
124 HUGCELL_USP ss5442184750 Oct 12, 2022 (156)
125 EVA ss5505751348 Oct 12, 2022 (156)
126 1000G_HIGH_COVERAGE ss5512618928 Oct 12, 2022 (156)
127 EVA ss5623912300 Oct 12, 2022 (156)
128 EVA ss5623986347 Oct 12, 2022 (156)
129 SANFORD_IMAGENETICS ss5624802392 Oct 12, 2022 (156)
130 TOMMO_GENOMICS ss5666397256 Oct 12, 2022 (156)
131 EVA ss5799473017 Oct 12, 2022 (156)
132 EVA ss5800076962 Oct 12, 2022 (156)
133 YY_MCH ss5800268938 Oct 12, 2022 (156)
134 EVA ss5831455381 Oct 12, 2022 (156)
135 EVA ss5847522611 Oct 12, 2022 (156)
136 EVA ss5848245520 Oct 12, 2022 (156)
137 EVA ss5848757884 Oct 12, 2022 (156)
138 EVA ss5906798896 Oct 12, 2022 (156)
139 EVA ss5936507712 Oct 12, 2022 (156)
140 EVA ss5936627468 Oct 12, 2022 (156)
141 EVA ss5979928464 Oct 12, 2022 (156)
142 EVA ss5981189743 Oct 12, 2022 (156)
143 1000Genomes NC_000001.10 - 3416449 Oct 11, 2018 (152)
144 1000Genomes_30x NC_000001.11 - 3499885 Oct 12, 2022 (156)
145 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3416449 Oct 11, 2018 (152)
146 Genetic variation in the Estonian population NC_000001.10 - 3416449 Oct 11, 2018 (152)
147 ExAC NC_000001.10 - 3416449 Oct 11, 2018 (152)
148 The Danish reference pan genome NC_000001.10 - 3416449 Apr 25, 2020 (154)
149 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 786606 (NC_000001.11:3499884:C:A 85753/140148)
Row 786607 (NC_000001.11:3499884:C:T 1/140174)

- Apr 25, 2021 (155)
150 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 786606 (NC_000001.11:3499884:C:A 85753/140148)
Row 786607 (NC_000001.11:3499884:C:T 1/140174)

- Apr 25, 2021 (155)
151 gnomAD - Exomes NC_000001.10 - 3416449 Jul 12, 2019 (153)
152 GO Exome Sequencing Project NC_000001.10 - 3416449 Oct 11, 2018 (152)
153 Genome of the Netherlands Release 5 NC_000001.10 - 3416449 Apr 25, 2020 (154)
154 HapMap NC_000001.11 - 3499885 Apr 25, 2020 (154)
155 KOREAN population from KRGDB NC_000001.10 - 3416449 Apr 25, 2020 (154)
156 Korean Genome Project NC_000001.11 - 3499885 Apr 25, 2020 (154)
157 Northern Sweden NC_000001.10 - 3416449 Jul 12, 2019 (153)
158 Qatari NC_000001.10 - 3416449 Apr 25, 2020 (154)
159 SGDP_PRJ NC_000001.10 - 3416449 Apr 25, 2020 (154)
160 Siberian NC_000001.10 - 3416449 Apr 25, 2020 (154)
161 8.3KJPN NC_000001.10 - 3416449 Apr 25, 2021 (155)
162 14KJPN NC_000001.11 - 3499885 Oct 12, 2022 (156)
163 TopMed NC_000001.11 - 3499885 Apr 25, 2021 (155)
164 UK 10K study - Twins NC_000001.10 - 3416449 Oct 11, 2018 (152)
165 A Vietnamese Genetic Variation Database NC_000001.10 - 3416449 Jul 12, 2019 (153)
166 ALFA NC_000001.11 - 3499885 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs61163190 May 26, 2008 (130)
rs117156040 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80226161 NC_000001.8:3439605:C:A NC_000001.11:3499884:C:A (self)
ss87172335, ss163002241, ss163733170, ss166005318, ss197920447, ss205559397, ss210454300, ss252878449, ss275690488, ss283990623, ss290497799, ss481592195, ss1584152362, ss2710661263 NC_000001.9:3406308:C:A NC_000001.11:3499884:C:A (self)
107365, 47381, 36032, 4434653, 1366203, 67094, 8609, 20253, 100595, 22326, 30447, 79530, 17062, 157564, 47381, 9820, ss218201609, ss230402995, ss238121973, ss481622179, ss482592043, ss485591040, ss489716224, ss491284914, ss553731623, ss647534253, ss712266349, ss780869122, ss783241117, ss783554132, ss832501695, ss974432735, ss974793216, ss1067415098, ss1289439702, ss1425692019, ss1573858969, ss1599421582, ss1642415615, ss1685258593, ss1751916474, ss1751916475, ss1793779232, ss1917721593, ss1917988517, ss1945982645, ss1945982646, ss1958234243, ss1958234244, ss2019510437, ss2147500708, ss2624271045, ss2632468226, ss2697394489, ss2731052132, ss2746193521, ss2750940517, ss2984842408, ss2986196730, ss3021047160, ss3021047161, ss3023056123, ss3343287343, ss3625523817, ss3633572074, ss3634303271, ss3634303272, ss3635266255, ss3635979626, ss3637016604, ss3640010636, ss3640010637, ss3644478506, ss3644478507, ss3646220062, ss3651369796, ss3651369797, ss3653616203, ss3654297784, ss3726737461, ss3744041003, ss3744338029, ss3744604268, ss3744604269, ss3745751343, ss3772105923, ss3772105924, ss3783308119, ss3788985048, ss3793857687, ss3823549875, ss3825517484, ss3825534724, ss3825551045, ss3825992619, ss3848062550, ss3892923201, ss3983912804, ss3983912805, ss3986094880, ss4016889969, ss5142188257, ss5316353826, ss5505751348, ss5623912300, ss5623986347, ss5624802392, ss5799473017, ss5800076962, ss5831455381, ss5847522611, ss5848245520, ss5936507712, ss5936627468, ss5979928464, ss5981189743 NC_000001.10:3416448:C:A NC_000001.11:3499884:C:A (self)
144863, 2449, 63878, 234360, 821103, 10191996943, ss2159550407, ss3023518873, ss3646586179, ss3686041463, ss3798773156, ss3943685877, ss4437214768, ss5236863296, ss5237158736, ss5240957538, ss5442184750, ss5512618928, ss5666397256, ss5800268938, ss5848757884, ss5906798896 NC_000001.11:3499884:C:A NC_000001.11:3499884:C:A (self)
ss11425617, ss20586895 NT_004321.15:723223:C:A NC_000001.11:3499884:C:A (self)
ss76896676 NT_004321.17:732228:C:A NC_000001.11:3499884:C:A (self)
ss65731997, ss86252838, ss97915247, ss105114513, ss137762341, ss138976721, ss159695816, ss160887745 NT_004350.19:2895080:C:A NC_000001.11:3499884:C:A (self)
100595, ss3892923201 NC_000001.10:3416448:C:G NC_000001.11:3499884:C:G (self)
10191996943 NC_000001.11:3499884:C:T NC_000001.11:3499884:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs7553399

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07