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dbSNP Short Genetic Variations

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.

rs11207827

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:61766458 (GRCh38.p13) 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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.257962 (68280/264690, TOPMED)
C=0.241986 (56012/231468, GnomAD_exome)
C=0.230685 (39873/172846, ALFA) (+ 20 more)
C=0.260878 (36536/140050, GnomAD)
C=0.244230 (29547/120980, ExAC)
C=0.46700 (7827/16760, 8.3KJPN)
C=0.27041 (3517/13006, GO-ESP)
C=0.2564 (1284/5008, 1000G)
C=0.2674 (1198/4480, Estonian)
C=0.2473 (953/3854, ALSPAC)
C=0.2500 (927/3708, TWINSUK)
C=0.4857 (1423/2930, KOREAN)
C=0.2726 (512/1878, HapMap)
C=0.2183 (248/1136, Daghestan)
C=0.247 (247/998, GoNL)
C=0.321 (195/608, Vietnamese)
C=0.308 (185/600, NorthernSweden)
C=0.172 (92/534, MGP)
C=0.283 (86/304, FINRISK)
T=0.400 (112/280, SGDP_PRJ)
C=0.194 (42/216, Qatari)
C=0.28 (11/40, GENOME_DK)
T=0.31 (10/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PATJ : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.61766458T>A
GRCh38.p13 chr 1 NC_000001.11:g.61766458T>C
GRCh38.p13 chr 1 NC_000001.11:g.61766458T>G
GRCh37.p13 chr 1 NC_000001.10:g.62232130T>A
GRCh37.p13 chr 1 NC_000001.10:g.62232130T>C
GRCh37.p13 chr 1 NC_000001.10:g.62232130T>G
Gene: PATJ, PATJ crumbs cell polarity complex component (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PATJ transcript variant 2 NM_001350145.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform 2 NP_001337074.2:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant 2 NM_001350145.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform 2 NP_001337074.2:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant 2 NM_001350145.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform 2 NP_001337074.2:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant 1 NM_176877.5:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform 1 NP_795352.3:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant 1 NM_176877.5:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform 1 NP_795352.3:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant 1 NM_176877.5:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform 1 NP_795352.3:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X11 XM_017000000.1:c. N/A Genic Upstream Transcript Variant
PATJ transcript variant X18 XM_017000001.1:c. N/A Genic Upstream Transcript Variant
PATJ transcript variant X2 XM_011540463.2:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538765.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X2 XM_011540463.2:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538765.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X2 XM_011540463.2:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538765.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X1 XM_011540462.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538764.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X1 XM_011540462.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538764.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X1 XM_011540462.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X1 XP_011538764.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X3 XM_011540464.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X2 XP_011538766.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X3 XM_011540464.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X2 XP_011538766.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X3 XM_011540464.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X2 XP_011538766.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X4 XM_011540465.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X3 XP_011538767.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X4 XM_011540465.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X3 XP_011538767.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X4 XM_011540465.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X3 XP_011538767.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X5 XM_011540466.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X4 XP_011538768.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X5 XM_011540466.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X4 XP_011538768.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X5 XM_011540466.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X4 XP_011538768.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X6 XM_024448614.1:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X5 XP_024304382.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X6 XM_024448614.1:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X5 XP_024304382.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X6 XM_024448614.1:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X5 XP_024304382.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X7 XM_016999998.2:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X6 XP_016855487.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X7 XM_016999998.2:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X6 XP_016855487.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X7 XM_016999998.2:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X6 XP_016855487.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X8 XM_011540467.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X7 XP_011538769.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X8 XM_011540467.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X7 XP_011538769.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X8 XM_011540467.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X7 XP_011538769.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X9 XM_016999999.2:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X8 XP_016855488.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X9 XM_016999999.2:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X8 XP_016855488.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X9 XM_016999999.2:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X8 XP_016855488.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X10 XM_024448642.1:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X9 XP_024304410.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X10 XM_024448642.1:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X9 XP_024304410.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X10 XM_024448642.1:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X9 XP_024304410.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X12 XM_011540468.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X11 XP_011538770.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X12 XM_011540468.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X11 XP_011538770.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X12 XM_011540468.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X11 XP_011538770.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X14 XM_011540469.3:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X12 XP_011538771.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X14 XM_011540469.3:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X12 XP_011538771.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X14 XM_011540469.3:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X12 XP_011538771.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X16 XM_005270347.2:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X13 XP_005270404.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X16 XM_005270347.2:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X13 XP_005270404.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X16 XM_005270347.2:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X13 XP_005270404.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X17 XM_006710278.4:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X14 XP_006710341.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X17 XM_006710278.4:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X14 XP_006710341.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X17 XM_006710278.4:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X14 XP_006710341.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X19 XM_011540470.2:c.369T>A I [ATT] > I [ATA] Coding Sequence Variant
inaD-like protein isoform X16 XP_011538772.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X19 XM_011540470.2:c.369T>C I [ATT] > I [ATC] Coding Sequence Variant
inaD-like protein isoform X16 XP_011538772.1:p.Ile123= I (Ile) > I (Ile) Synonymous Variant
PATJ transcript variant X19 XM_011540470.2:c.369T>G I [ATT] > M [ATG] Coding Sequence Variant
inaD-like protein isoform X16 XP_011538772.1:p.Ile123Met I (Ile) > M (Met) Missense Variant
PATJ transcript variant X13 XR_002957157.1:n.483T>A N/A Non Coding Transcript Variant
PATJ transcript variant X13 XR_002957157.1:n.483T>C N/A Non Coding Transcript Variant
PATJ transcript variant X13 XR_002957157.1:n.483T>G N/A Non Coding Transcript Variant
PATJ transcript variant X15 XR_001736900.2:n.483T>A N/A Non Coding Transcript Variant
PATJ transcript variant X15 XR_001736900.2:n.483T>C N/A Non Coding Transcript Variant
PATJ transcript variant X15 XR_001736900.2:n.483T>G N/A Non Coding Transcript 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 172846 T=0.769315 C=0.230685
European Sub 142944 T=0.771624 C=0.228376
African Sub 9542 T=0.7074 C=0.2926
African Others Sub 326 T=0.702 C=0.298
African American Sub 9216 T=0.7076 C=0.2924
Asian Sub 400 T=0.642 C=0.357
East Asian Sub 270 T=0.615 C=0.385
Other Asian Sub 130 T=0.700 C=0.300
Latin American 1 Sub 1074 T=0.7682 C=0.2318
Latin American 2 Sub 6068 T=0.8270 C=0.1730
South Asian Sub 168 T=0.804 C=0.196
Other Sub 12650 T=0.76593 C=0.23407


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 T=0.742038 C=0.257962
gnomAD - Exomes Global Study-wide 231468 T=0.758014 C=0.241986
gnomAD - Exomes European Sub 130074 T=0.750596 C=0.249404
gnomAD - Exomes Asian Sub 42674 T=0.73246 C=0.26754
gnomAD - Exomes American Sub 28072 T=0.83489 C=0.16511
gnomAD - Exomes African Sub 15652 T=0.69429 C=0.30571
gnomAD - Exomes Ashkenazi Jewish Sub 9356 T=0.8453 C=0.1547
gnomAD - Exomes Other Sub 5640 T=0.7718 C=0.2282
gnomAD - Genomes Global Study-wide 140050 T=0.739122 C=0.260878
gnomAD - Genomes European Sub 75882 T=0.74968 C=0.25032
gnomAD - Genomes African Sub 41930 T=0.69750 C=0.30250
gnomAD - Genomes American Sub 13642 T=0.81821 C=0.18179
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.8525 C=0.1475
gnomAD - Genomes East Asian Sub 3124 T=0.5627 C=0.4373
gnomAD - Genomes Other Sub 2150 T=0.7577 C=0.2423
ExAC Global Study-wide 120980 T=0.755770 C=0.244230
ExAC Europe Sub 73226 T=0.75643 C=0.24357
ExAC Asian Sub 24904 T=0.74084 C=0.25916
ExAC American Sub 11566 T=0.84195 C=0.15805
ExAC African Sub 10380 T=0.69037 C=0.30963
ExAC Other Sub 904 T=0.762 C=0.238
8.3KJPN JAPANESE Study-wide 16760 T=0.53300 C=0.46700
GO Exome Sequencing Project Global Study-wide 13006 T=0.72959 C=0.27041
GO Exome Sequencing Project European American Sub 8600 T=0.7556 C=0.2444
GO Exome Sequencing Project African American Sub 4406 T=0.6788 C=0.3212
1000Genomes Global Study-wide 5008 T=0.7436 C=0.2564
1000Genomes African Sub 1322 T=0.6906 C=0.3094
1000Genomes East Asian Sub 1008 T=0.6310 C=0.3690
1000Genomes Europe Sub 1006 T=0.7654 C=0.2346
1000Genomes South Asian Sub 978 T=0.851 C=0.149
1000Genomes American Sub 694 T=0.826 C=0.174
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7326 C=0.2674
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7527 C=0.2473
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7500 C=0.2500
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5143 A=0.0000, C=0.4857, G=0.0000
HapMap Global Study-wide 1878 T=0.7274 C=0.2726
HapMap American Sub 762 T=0.718 C=0.282
HapMap African Sub 688 T=0.762 C=0.238
HapMap Asian Sub 252 T=0.587 C=0.413
HapMap Europe Sub 176 T=0.835 C=0.165
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.7817 C=0.2183
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.782 C=0.218
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.799 C=0.201
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.664 C=0.336
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.796 C=0.204
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.88 C=0.12
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.81 C=0.19
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.753 C=0.247
A Vietnamese Genetic Variation Database Global Study-wide 608 T=0.679 C=0.321
Northern Sweden ACPOP Study-wide 600 T=0.692 C=0.308
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.828 C=0.172
FINRISK Finnish from FINRISK project Study-wide 304 T=0.717 C=0.283
SGDP_PRJ Global Study-wide 280 T=0.400 C=0.600
Qatari Global Study-wide 216 T=0.806 C=0.194
The Danish reference pan genome Danish Study-wide 40 T=0.72 C=0.28
Siberian Global Study-wide 32 T=0.31 C=0.69
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 T= A C G
GRCh38.p13 chr 1 NC_000001.11:g.61766458= NC_000001.11:g.61766458T>A NC_000001.11:g.61766458T>C NC_000001.11:g.61766458T>G
GRCh37.p13 chr 1 NC_000001.10:g.62232130= NC_000001.10:g.62232130T>A NC_000001.10:g.62232130T>C NC_000001.10:g.62232130T>G
PATJ transcript variant 1 NM_176877.5:c.369= NM_176877.5:c.369T>A NM_176877.5:c.369T>C NM_176877.5:c.369T>G
PATJ transcript variant 1 NM_176877.4:c.369= NM_176877.4:c.369T>A NM_176877.4:c.369T>C NM_176877.4:c.369T>G
PATJ transcript variant 1 NM_176877.3:c.369= NM_176877.3:c.369T>A NM_176877.3:c.369T>C NM_176877.3:c.369T>G
PATJ transcript NM_176877.2:c.369= NM_176877.2:c.369T>A NM_176877.2:c.369T>C NM_176877.2:c.369T>G
PATJ transcript variant X17 XM_006710278.4:c.369= XM_006710278.4:c.369T>A XM_006710278.4:c.369T>C XM_006710278.4:c.369T>G
PATJ transcript variant 2 NM_001350145.3:c.369= NM_001350145.3:c.369T>A NM_001350145.3:c.369T>C NM_001350145.3:c.369T>G
PATJ transcript variant 2 NM_001350145.2:c.369= NM_001350145.2:c.369T>A NM_001350145.2:c.369T>C NM_001350145.2:c.369T>G
PATJ transcript variant 2 NM_001350145.1:c.369= NM_001350145.1:c.369T>A NM_001350145.1:c.369T>C NM_001350145.1:c.369T>G
PATJ transcript variant X1 XM_011540462.3:c.369= XM_011540462.3:c.369T>A XM_011540462.3:c.369T>C XM_011540462.3:c.369T>G
PATJ transcript variant X3 XM_011540464.3:c.369= XM_011540464.3:c.369T>A XM_011540464.3:c.369T>C XM_011540464.3:c.369T>G
PATJ transcript variant X4 XM_011540465.3:c.369= XM_011540465.3:c.369T>A XM_011540465.3:c.369T>C XM_011540465.3:c.369T>G
PATJ transcript variant X5 XM_011540466.3:c.369= XM_011540466.3:c.369T>A XM_011540466.3:c.369T>C XM_011540466.3:c.369T>G
PATJ transcript variant X8 XM_011540467.3:c.369= XM_011540467.3:c.369T>A XM_011540467.3:c.369T>C XM_011540467.3:c.369T>G
PATJ transcript variant X12 XM_011540468.3:c.369= XM_011540468.3:c.369T>A XM_011540468.3:c.369T>C XM_011540468.3:c.369T>G
PATJ transcript variant X14 XM_011540469.3:c.369= XM_011540469.3:c.369T>A XM_011540469.3:c.369T>C XM_011540469.3:c.369T>G
PATJ transcript variant X2 XM_011540463.2:c.369= XM_011540463.2:c.369T>A XM_011540463.2:c.369T>C XM_011540463.2:c.369T>G
PATJ transcript variant X7 XM_016999998.2:c.369= XM_016999998.2:c.369T>A XM_016999998.2:c.369T>C XM_016999998.2:c.369T>G
PATJ transcript variant X9 XM_016999999.2:c.369= XM_016999999.2:c.369T>A XM_016999999.2:c.369T>C XM_016999999.2:c.369T>G
INADL transcript variant 1 NM_170605.2:c.369= NM_170605.2:c.369T>A NM_170605.2:c.369T>C NM_170605.2:c.369T>G
INADL transcript variant 3 NM_005799.2:c.369= NM_005799.2:c.369T>A NM_005799.2:c.369T>C NM_005799.2:c.369T>G
PATJ transcript variant X15 XR_001736900.2:n.483= XR_001736900.2:n.483T>A XR_001736900.2:n.483T>C XR_001736900.2:n.483T>G
PATJ transcript variant X16 XM_005270347.2:c.369= XM_005270347.2:c.369T>A XM_005270347.2:c.369T>C XM_005270347.2:c.369T>G
PATJ transcript variant X14 XM_005270347.1:c.369= XM_005270347.1:c.369T>A XM_005270347.1:c.369T>C XM_005270347.1:c.369T>G
PATJ transcript variant X19 XM_011540470.2:c.369= XM_011540470.2:c.369T>A XM_011540470.2:c.369T>C XM_011540470.2:c.369T>G
PATJ transcript variant X6 XM_024448614.1:c.369= XM_024448614.1:c.369T>A XM_024448614.1:c.369T>C XM_024448614.1:c.369T>G
PATJ transcript variant X10 XM_024448642.1:c.369= XM_024448642.1:c.369T>A XM_024448642.1:c.369T>C XM_024448642.1:c.369T>G
INADL transcript NM_170605.1:c.369C>T NM_170605.1:c.369C>A NM_170605.1:c.369= NM_170605.1:c.369C>G
INADL transcript variant 4 NM_176878.1:c.369= NM_176878.1:c.369T>A NM_176878.1:c.369T>C NM_176878.1:c.369T>G
INADL transcript NM_005799.1:c.369= NM_005799.1:c.369T>A NM_005799.1:c.369T>C NM_005799.1:c.369T>G
PATJ transcript variant X13 XR_002957157.1:n.483= XR_002957157.1:n.483T>A XR_002957157.1:n.483T>C XR_002957157.1:n.483T>G
inaD-like protein isoform 1 NP_795352.3:p.Ile123= NP_795352.3:p.Ile123= NP_795352.3:p.Ile123= NP_795352.3:p.Ile123Met
inaD-like protein isoform X14 XP_006710341.1:p.Ile123= XP_006710341.1:p.Ile123= XP_006710341.1:p.Ile123= XP_006710341.1:p.Ile123Met
inaD-like protein isoform 2 NP_001337074.2:p.Ile123= NP_001337074.2:p.Ile123= NP_001337074.2:p.Ile123= NP_001337074.2:p.Ile123Met
inaD-like protein isoform X1 XP_011538764.1:p.Ile123= XP_011538764.1:p.Ile123= XP_011538764.1:p.Ile123= XP_011538764.1:p.Ile123Met
inaD-like protein isoform X2 XP_011538766.1:p.Ile123= XP_011538766.1:p.Ile123= XP_011538766.1:p.Ile123= XP_011538766.1:p.Ile123Met
inaD-like protein isoform X3 XP_011538767.1:p.Ile123= XP_011538767.1:p.Ile123= XP_011538767.1:p.Ile123= XP_011538767.1:p.Ile123Met
inaD-like protein isoform X4 XP_011538768.1:p.Ile123= XP_011538768.1:p.Ile123= XP_011538768.1:p.Ile123= XP_011538768.1:p.Ile123Met
inaD-like protein isoform X7 XP_011538769.1:p.Ile123= XP_011538769.1:p.Ile123= XP_011538769.1:p.Ile123= XP_011538769.1:p.Ile123Met
inaD-like protein isoform X11 XP_011538770.1:p.Ile123= XP_011538770.1:p.Ile123= XP_011538770.1:p.Ile123= XP_011538770.1:p.Ile123Met
inaD-like protein isoform X12 XP_011538771.1:p.Ile123= XP_011538771.1:p.Ile123= XP_011538771.1:p.Ile123= XP_011538771.1:p.Ile123Met
inaD-like protein isoform X1 XP_011538765.1:p.Ile123= XP_011538765.1:p.Ile123= XP_011538765.1:p.Ile123= XP_011538765.1:p.Ile123Met
inaD-like protein isoform X6 XP_016855487.1:p.Ile123= XP_016855487.1:p.Ile123= XP_016855487.1:p.Ile123= XP_016855487.1:p.Ile123Met
inaD-like protein isoform X8 XP_016855488.1:p.Ile123= XP_016855488.1:p.Ile123= XP_016855488.1:p.Ile123= XP_016855488.1:p.Ile123Met
inaD-like protein isoform X13 XP_005270404.1:p.Ile123= XP_005270404.1:p.Ile123= XP_005270404.1:p.Ile123= XP_005270404.1:p.Ile123Met
inaD-like protein isoform X16 XP_011538772.1:p.Ile123= XP_011538772.1:p.Ile123= XP_011538772.1:p.Ile123= XP_011538772.1:p.Ile123Met
inaD-like protein isoform X5 XP_024304382.1:p.Ile123= XP_024304382.1:p.Ile123= XP_024304382.1:p.Ile123= XP_024304382.1:p.Ile123Met
inaD-like protein isoform X9 XP_024304410.1:p.Ile123= XP_024304410.1:p.Ile123= XP_024304410.1:p.Ile123= XP_024304410.1:p.Ile123Met
inaD-like protein isoform 1 NP_795352.2:p.Ile123= NP_795352.2:p.Ile123= NP_795352.2:p.Ile123= NP_795352.2:p.Ile123Met
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#.

109 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17360278 Feb 27, 2004 (120)
2 SC_SNP ss18105382 Feb 27, 2004 (120)
3 ABI ss43931166 Mar 14, 2006 (126)
4 ILLUMINA ss65736853 Oct 15, 2006 (127)
5 ILLUMINA ss74855134 Dec 06, 2007 (129)
6 HGSV ss78377592 Dec 06, 2007 (129)
7 HGSV ss83080104 Dec 14, 2007 (130)
8 BGI ss102746339 Dec 01, 2009 (131)
9 1000GENOMES ss108244351 Jan 23, 2009 (130)
10 1000GENOMES ss110525585 Jan 24, 2009 (130)
11 ILLUMINA-UK ss118736376 Feb 14, 2009 (130)
12 KRIBB_YJKIM ss119678169 Dec 01, 2009 (131)
13 GMI ss155065029 Dec 01, 2009 (131)
14 SEATTLESEQ ss159697653 Dec 01, 2009 (131)
15 ILLUMINA ss159970106 Dec 01, 2009 (131)
16 ENSEMBL ss161265474 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163438757 Jul 04, 2010 (132)
18 ILLUMINA ss171166273 Jul 04, 2010 (132)
19 BUSHMAN ss198519646 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205397577 Jul 04, 2010 (132)
21 1000GENOMES ss218411732 Jul 14, 2010 (132)
22 1000GENOMES ss230554136 Jul 14, 2010 (132)
23 1000GENOMES ss238245190 Jul 15, 2010 (132)
24 GMI ss275845415 May 04, 2012 (137)
25 PJP ss290520971 May 09, 2011 (134)
26 NHLBI-ESP ss341967602 May 09, 2011 (134)
27 ILLUMINA ss479498013 May 04, 2012 (137)
28 ILLUMINA ss479501917 May 04, 2012 (137)
29 ILLUMINA ss479946161 Sep 08, 2015 (146)
30 ILLUMINA ss484548335 May 04, 2012 (137)
31 1000GENOMES ss489745904 May 04, 2012 (137)
32 CLINSEQ_SNP ss491595871 May 04, 2012 (137)
33 ILLUMINA ss536686815 Sep 08, 2015 (146)
34 TISHKOFF ss554164752 Apr 25, 2013 (138)
35 SSMP ss648020826 Apr 25, 2013 (138)
36 ILLUMINA ss778380831 Aug 21, 2014 (142)
37 ILLUMINA ss782720832 Aug 21, 2014 (142)
38 ILLUMINA ss783688398 Aug 21, 2014 (142)
39 ILLUMINA ss831972401 Apr 01, 2015 (144)
40 ILLUMINA ss833835808 Aug 21, 2014 (142)
41 JMKIDD_LAB ss974435524 Aug 21, 2014 (142)
42 EVA-GONL ss975210323 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067421939 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067925566 Aug 21, 2014 (142)
45 1000GENOMES ss1291085827 Aug 21, 2014 (142)
46 HAMMER_LAB ss1397247139 Sep 08, 2015 (146)
47 DDI ss1425824520 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1574094191 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584008404 Apr 01, 2015 (144)
50 EVA_DECODE ss1584578361 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1600277070 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1643271103 Apr 01, 2015 (144)
53 EVA_EXAC ss1685575049 Apr 01, 2015 (144)
54 EVA_MGP ss1710907203 Apr 01, 2015 (144)
55 EVA_SVP ss1712337218 Apr 01, 2015 (144)
56 ILLUMINA ss1751928071 Sep 08, 2015 (146)
57 HAMMER_LAB ss1794441079 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1918418650 Feb 12, 2016 (147)
59 JJLAB ss2019725594 Sep 14, 2016 (149)
60 USC_VALOUEV ss2147741135 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2162904155 Dec 20, 2016 (150)
62 TOPMED ss2325153085 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2624376546 Nov 08, 2017 (151)
64 ILLUMINA ss2632522205 Nov 08, 2017 (151)
65 GRF ss2697656530 Nov 08, 2017 (151)
66 GNOMAD ss2731540478 Nov 08, 2017 (151)
67 GNOMAD ss2746344339 Nov 08, 2017 (151)
68 GNOMAD ss2755684915 Nov 08, 2017 (151)
69 AFFY ss2985512493 Nov 08, 2017 (151)
70 SWEGEN ss2986893056 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3023623462 Nov 08, 2017 (151)
72 TOPMED ss3077881890 Nov 08, 2017 (151)
73 CSHL ss3343475926 Nov 08, 2017 (151)
74 ILLUMINA ss3626109225 Oct 11, 2018 (152)
75 ILLUMINA ss3630558008 Oct 11, 2018 (152)
76 ILLUMINA ss3632893507 Oct 11, 2018 (152)
77 ILLUMINA ss3633588168 Oct 11, 2018 (152)
78 ILLUMINA ss3634327102 Oct 11, 2018 (152)
79 ILLUMINA ss3635281997 Oct 11, 2018 (152)
80 ILLUMINA ss3636002708 Oct 11, 2018 (152)
81 ILLUMINA ss3637032419 Oct 11, 2018 (152)
82 ILLUMINA ss3637759905 Oct 11, 2018 (152)
83 ILLUMINA ss3640034463 Oct 11, 2018 (152)
84 ILLUMINA ss3640981661 Oct 11, 2018 (152)
85 ILLUMINA ss3641275614 Oct 11, 2018 (152)
86 ILLUMINA ss3642771754 Oct 11, 2018 (152)
87 OMUKHERJEE_ADBS ss3646231390 Oct 11, 2018 (152)
88 EGCUT_WGS ss3654961262 Jul 12, 2019 (153)
89 EVA_DECODE ss3686864816 Jul 12, 2019 (153)
90 ACPOP ss3727088470 Jul 12, 2019 (153)
91 ILLUMINA ss3744628025 Jul 12, 2019 (153)
92 EVA ss3746265183 Jul 12, 2019 (153)
93 ILLUMINA ss3772129420 Jul 12, 2019 (153)
94 KHV_HUMAN_GENOMES ss3799271943 Jul 12, 2019 (153)
95 EVA ss3823617515 Apr 25, 2020 (154)
96 EVA ss3825566199 Apr 25, 2020 (154)
97 EVA ss3826195699 Apr 25, 2020 (154)
98 EVA ss3836485414 Apr 25, 2020 (154)
99 EVA ss3841891696 Apr 25, 2020 (154)
100 SGDP_PRJ ss3848945961 Apr 25, 2020 (154)
101 KRGDB ss3893965349 Apr 25, 2020 (154)
102 FSA-LAB ss3983933099 Apr 25, 2021 (155)
103 FSA-LAB ss3983933100 Apr 25, 2021 (155)
104 EVA ss3986122232 Apr 25, 2021 (155)
105 EVA ss4016913267 Apr 25, 2021 (155)
106 TOPMED ss4451427300 Apr 25, 2021 (155)
107 TOMMO_GENOMICS ss5144162430 Apr 25, 2021 (155)
108 EVA ss5236869824 Apr 25, 2021 (155)
109 EVA ss5237161991 Apr 25, 2021 (155)
110 1000Genomes NC_000001.10 - 62232130 Oct 11, 2018 (152)
111 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 62232130 Oct 11, 2018 (152)
112 Genome-wide autozygosity in Daghestan NC_000001.9 - 62004718 Apr 25, 2020 (154)
113 Genetic variation in the Estonian population NC_000001.10 - 62232130 Oct 11, 2018 (152)
114 ExAC NC_000001.10 - 62232130 Oct 11, 2018 (152)
115 FINRISK NC_000001.10 - 62232130 Apr 25, 2020 (154)
116 The Danish reference pan genome NC_000001.10 - 62232130 Apr 25, 2020 (154)
117 gnomAD - Genomes NC_000001.11 - 61766458 Apr 25, 2021 (155)
118 gnomAD - Exomes NC_000001.10 - 62232130 Jul 12, 2019 (153)
119 GO Exome Sequencing Project NC_000001.10 - 62232130 Oct 11, 2018 (152)
120 Genome of the Netherlands Release 5 NC_000001.10 - 62232130 Apr 25, 2020 (154)
121 HapMap NC_000001.11 - 61766458 Apr 25, 2020 (154)
122 KOREAN population from KRGDB NC_000001.10 - 62232130 Apr 25, 2020 (154)
123 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 62232130 Apr 25, 2020 (154)
124 Northern Sweden NC_000001.10 - 62232130 Jul 12, 2019 (153)
125 Qatari NC_000001.10 - 62232130 Apr 25, 2020 (154)
126 SGDP_PRJ NC_000001.10 - 62232130 Apr 25, 2020 (154)
127 Siberian NC_000001.10 - 62232130 Apr 25, 2020 (154)
128 8.3KJPN NC_000001.10 - 62232130 Apr 25, 2021 (155)
129 TopMed NC_000001.11 - 61766458 Apr 25, 2021 (155)
130 UK 10K study - Twins NC_000001.10 - 62232130 Oct 11, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000001.10 - 62232130 Jul 12, 2019 (153)
132 ALFA NC_000001.11 - 61766458 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)
rs57585253 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1142743, ss3893965349 NC_000001.10:62232129:T:A NC_000001.11:61766457:T:A (self)
ss78377592, ss83080104 NC_000001.8:61944150:T:C NC_000001.11:61766457:T:C (self)
8548, ss108244351, ss110525585, ss118736376, ss159970106, ss163438757, ss198519646, ss205397577, ss275845415, ss290520971, ss479498013, ss491595871, ss1397247139, ss1584578361, ss1712337218, ss3642771754 NC_000001.9:62004717:T:C NC_000001.11:61766457:T:C (self)
1810682, 989332, 699510, 4773907, 4865, 1521181, 559208, 76180, 420734, 1142743, 23955, 373335, 460580, 962941, 257489, 2131737, 989332, 206036, ss218411732, ss230554136, ss238245190, ss341967602, ss479501917, ss479946161, ss484548335, ss489745904, ss536686815, ss554164752, ss648020826, ss778380831, ss782720832, ss783688398, ss831972401, ss833835808, ss974435524, ss975210323, ss1067421939, ss1067925566, ss1291085827, ss1425824520, ss1574094191, ss1584008404, ss1600277070, ss1643271103, ss1685575049, ss1710907203, ss1751928071, ss1794441079, ss1918418650, ss2019725594, ss2147741135, ss2325153085, ss2624376546, ss2632522205, ss2697656530, ss2731540478, ss2746344339, ss2755684915, ss2985512493, ss2986893056, ss3343475926, ss3626109225, ss3630558008, ss3632893507, ss3633588168, ss3634327102, ss3635281997, ss3636002708, ss3637032419, ss3637759905, ss3640034463, ss3640981661, ss3641275614, ss3646231390, ss3654961262, ss3727088470, ss3744628025, ss3746265183, ss3772129420, ss3823617515, ss3825566199, ss3826195699, ss3836485414, ss3848945961, ss3893965349, ss3983933099, ss3983933100, ss3986122232, ss4016913267, ss5144162430 NC_000001.10:62232129:T:C NC_000001.11:61766457:T:C (self)
12764684, 79583, 9463127, 15033635, 9514619214, ss2162904155, ss3023623462, ss3077881890, ss3686864816, ss3799271943, ss3841891696, ss4451427300, ss5236869824, ss5237161991 NC_000001.11:61766457:T:C NC_000001.11:61766457:T:C (self)
ss17360278, ss18105382 NT_032977.6:23795199:T:C NC_000001.11:61766457:T:C (self)
ss43931166, ss65736853, ss74855134, ss102746339, ss119678169, ss155065029, ss159697653, ss161265474, ss171166273 NT_032977.9:32204047:T:C NC_000001.11:61766457:T:C (self)
1142743, ss3893965349 NC_000001.10:62232129:T:G NC_000001.11:61766457:T:G (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 rs11207827

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.post596+ae089ad