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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.

rs115180098

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17602183 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.007280 (1927/264690, TOPMED)
A=0.001432 (282/196916, GnomAD_exome)
A=0.006581 (923/140248, GnomAD) (+ 9 more)
A=0.00155 (87/55986, ALFA)
A=0.00444 (130/29308, ExAC)
A=0.00006 (1/16760, 8.3KJPN)
A=0.00672 (87/12944, GO-ESP)
A=0.0068 (34/5008, 1000G)
A=0.0003 (1/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.002 (1/534, MGP)
A=0.005 (1/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARHGEF10L : 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.17602183G>A
GRCh37.p13 chr 1 NC_000001.10:g.17928678G>A
ARHGEF10L RefSeqGene NG_050860.1:g.86987G>A
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 4 NM_001319838.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.610G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.610G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c. N/A Genic Upstream Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.314G>A R [CGG] > Q [CAG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg105Gln R (Arg) > Q (Gln) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.456G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n.456G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.443G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.443G>A 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.

Allele: A (allele ID: 731883 )
ClinVar Accession Disease Names Clinical Significance
RCV000908842.1 not provided Benign

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 55986 G=0.99845 A=0.00155
European Sub 43402 G=0.99988 A=0.00012
African Sub 3584 G=0.9830 A=0.0170
African Others Sub 122 G=0.984 A=0.016
African American Sub 3462 G=0.9830 A=0.0170
Asian Sub 172 G=1.000 A=0.000
East Asian Sub 114 G=1.000 A=0.000
Other Asian Sub 58 G=1.00 A=0.00
Latin American 1 Sub 508 G=0.984 A=0.016
Latin American 2 Sub 634 G=0.998 A=0.002
South Asian Sub 98 G=1.00 A=0.00
Other Sub 7588 G=0.9984 A=0.0016


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 G=0.992720 A=0.007280
gnomAD - Exomes Global Study-wide 196916 G=0.998568 A=0.001432
gnomAD - Exomes European Sub 101280 G=0.999921 A=0.000079
gnomAD - Exomes Asian Sub 40182 G=0.99990 A=0.00010
gnomAD - Exomes American Sub 29864 G=0.99893 A=0.00107
gnomAD - Exomes African Sub 11554 G=0.98044 A=0.01956
gnomAD - Exomes Ashkenazi Jewish Sub 8998 G=0.9994 A=0.0006
gnomAD - Exomes Other Sub 5038 G=0.9986 A=0.0014
gnomAD - Genomes Global Study-wide 140248 G=0.993419 A=0.006581
gnomAD - Genomes European Sub 75952 G=0.99986 A=0.00014
gnomAD - Genomes African Sub 42036 G=0.97935 A=0.02065
gnomAD - Genomes American Sub 13654 G=0.99766 A=0.00234
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9997 A=0.0003
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9949 A=0.0051
ExAC Global Study-wide 29308 G=0.99556 A=0.00444
ExAC Europe Sub 14072 G=0.99964 A=0.00036
ExAC Asian Sub 9878 G=0.9998 A=0.0002
ExAC African Sub 3512 G=0.9673 A=0.0327
ExAC American Sub 1574 G=0.9949 A=0.0051
ExAC Other Sub 272 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 12944 G=0.99328 A=0.00672
GO Exome Sequencing Project European American Sub 8572 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 4372 G=0.9808 A=0.0192
1000Genomes Global Study-wide 5008 G=0.9932 A=0.0068
1000Genomes African Sub 1322 G=0.9766 A=0.0234
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.996 A=0.004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 A=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.0000 A=0.0000
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
Qatari Global Study-wide 216 G=0.995 A=0.005
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 G= A
GRCh38.p13 chr 1 NC_000001.11:g.17602183= NC_000001.11:g.17602183G>A
GRCh37.p13 chr 1 NC_000001.10:g.17928678= NC_000001.10:g.17928678G>A
ARHGEF10L RefSeqGene NG_050860.1:g.86987= NG_050860.1:g.86987G>A
ARHGEF10L transcript variant 1 NM_018125.4:c.314= NM_018125.4:c.314G>A
ARHGEF10L transcript variant 1 NM_018125.3:c.314= NM_018125.3:c.314G>A
ARHGEF10L transcript variant 6 NR_137287.2:n.610= NR_137287.2:n.610G>A
ARHGEF10L transcript variant 6 NR_137287.1:n.473= NR_137287.1:n.473G>A
ARHGEF10L transcript variant 7 NR_137288.2:n.610= NR_137288.2:n.610G>A
ARHGEF10L transcript variant 7 NR_137288.1:n.473= NR_137288.1:n.473G>A
ARHGEF10L transcript variant 2 NM_001011722.2:c.314= NM_001011722.2:c.314G>A
ARHGEF10L transcript variant 3 NM_001319837.1:c.314= NM_001319837.1:c.314G>A
ARHGEF10L transcript variant X13 XR_946686.3:n.443= XR_946686.3:n.443G>A
ARHGEF10L transcript variant X2 XM_005245923.2:c.314= XM_005245923.2:c.314G>A
ARHGEF10L transcript variant X3 XM_005245923.1:c.314= XM_005245923.1:c.314G>A
ARHGEF10L transcript variant X8 XM_011541691.2:c.314= XM_011541691.2:c.314G>A
ARHGEF10L transcript variant X10 XM_011541692.2:c.314= XM_011541692.2:c.314G>A
ARHGEF10L transcript variant X9 XM_005245925.2:c.314= XM_005245925.2:c.314G>A
ARHGEF10L transcript variant X5 XM_005245925.1:c.314= XM_005245925.1:c.314G>A
ARHGEF10L transcript variant X11 XM_011541693.2:c.314= XM_011541693.2:c.314G>A
ARHGEF10L transcript variant X22 XR_946690.2:n.456= XR_946690.2:n.456G>A
ARHGEF10L transcript variant X20 XR_946688.2:n.443= XR_946688.2:n.443G>A
ARHGEF10L transcript variant X21 XR_946689.2:n.443= XR_946689.2:n.443G>A
ARHGEF10L transcript variant X24 XR_946691.2:n.443= XR_946691.2:n.443G>A
ARHGEF10L transcript variant X17 XM_017001619.1:c.314= XM_017001619.1:c.314G>A
ARHGEF10L transcript variant X18 XM_017001620.1:c.314= XM_017001620.1:c.314G>A
ARHGEF10L transcript variant X23 XR_002956988.1:n.443= XR_002956988.1:n.443G>A
ARHGEF10L transcript variant X25 XR_002956989.1:n.443= XR_002956989.1:n.443G>A
ARHGEF10L transcript variant X1 XM_006710728.1:c.314= XM_006710728.1:c.314G>A
ARHGEF10L transcript variant X6 XM_006710731.1:c.314= XM_006710731.1:c.314G>A
ARHGEF10L transcript variant X26 XM_017001621.1:c.314= XM_017001621.1:c.314G>A
ARHGEF10L transcript variant X27 XM_017001622.1:c.314= XM_017001622.1:c.314G>A
ARHGEF10L transcript variant X3 XM_024448059.1:c.314= XM_024448059.1:c.314G>A
ARHGEF10L transcript variant X4 XM_024448061.1:c.314= XM_024448061.1:c.314G>A
ARHGEF10L transcript variant X7 XM_006710729.1:c.314= XM_006710729.1:c.314G>A
ARHGEF10L transcript variant X12 XM_017001617.1:c.314= XM_017001617.1:c.314G>A
ARHGEF10L transcript variant X5 XM_024448062.1:c.314= XM_024448062.1:c.314G>A
ARHGEF10L transcript variant X19 XR_001737277.1:n.443= XR_001737277.1:n.443G>A
ARHGEF10L transcript variant X14 XR_001737276.1:n.456= XR_001737276.1:n.456G>A
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Arg105= NP_060595.3:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Arg105= NP_001011722.2:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Arg105= NP_001306766.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Arg105= XP_005245980.2:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Arg105= XP_011539993.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Arg105= XP_011539994.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Arg105= XP_005245982.2:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Arg105= XP_011539995.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Arg105= XP_016857108.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Arg105= XP_016857109.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Arg105= XP_006710791.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Arg105= XP_006710794.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Arg105= XP_016857110.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Arg105= XP_016857111.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Arg105= XP_024303827.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Arg105= XP_024303829.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Arg105= XP_006710792.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Arg105= XP_016857106.1:p.Arg105Gln
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Arg105= XP_024303830.1:p.Arg105Gln
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Arg105= XP_005245980.1:p.Arg105Gln
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Arg105= XP_005245982.1:p.Arg105Gln
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#.

31 SubSNP, 12 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217405886 Jul 14, 2010 (132)
2 1000GENOMES ss217411009 Jul 14, 2010 (132)
3 1000GENOMES ss218259975 Jul 14, 2010 (132)
4 NHLBI-ESP ss341939143 May 09, 2011 (134)
5 ILLUMINA ss482155581 May 04, 2012 (137)
6 ILLUMINA ss482617135 May 04, 2012 (137)
7 1000GENOMES ss489724741 May 04, 2012 (137)
8 EXOME_CHIP ss491287910 May 04, 2012 (137)
9 ILLUMINA ss534936635 Sep 08, 2015 (146)
10 ILLUMINA ss781820846 Sep 08, 2015 (146)
11 1000GENOMES ss1289865385 Aug 21, 2014 (142)
12 EVA_UK10K_ALSPAC ss1599635723 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1642629756 Apr 01, 2015 (144)
14 EVA_EXAC ss1685350470 Apr 01, 2015 (144)
15 EVA_MGP ss1710892533 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1918112214 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2160377983 Dec 20, 2016 (150)
18 TOPMED ss2322558790 Dec 20, 2016 (150)
19 GNOMAD ss2731191531 Nov 08, 2017 (151)
20 GNOMAD ss2746239653 Nov 08, 2017 (151)
21 GNOMAD ss2752191203 Nov 08, 2017 (151)
22 AFFY ss2984847521 Nov 08, 2017 (151)
23 TOPMED ss3069845261 Nov 08, 2017 (151)
24 ILLUMINA ss3626037229 Oct 11, 2018 (152)
25 ILLUMINA ss3653621252 Oct 11, 2018 (152)
26 KHV_HUMAN_GENOMES ss3798907625 Jul 12, 2019 (153)
27 EVA ss3823568973 Apr 25, 2020 (154)
28 EVA ss3825555445 Apr 25, 2020 (154)
29 EVA ss3986103623 Apr 27, 2021 (155)
30 TOPMED ss4440701741 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5142731251 Apr 27, 2021 (155)
32 1000Genomes NC_000001.10 - 17928678 Oct 11, 2018 (152)
33 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 17928678 Oct 11, 2018 (152)
34 ExAC NC_000001.10 - 17928678 Oct 11, 2018 (152)
35 gnomAD - Genomes NC_000001.11 - 17602183 Apr 27, 2021 (155)
36 gnomAD - Exomes NC_000001.10 - 17928678 Jul 12, 2019 (153)
37 GO Exome Sequencing Project NC_000001.10 - 17928678 Oct 11, 2018 (152)
38 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 17928678 Apr 25, 2020 (154)
39 Qatari NC_000001.10 - 17928678 Apr 25, 2020 (154)
40 8.3KJPN NC_000001.10 - 17928678 Apr 27, 2021 (155)
41 TopMed NC_000001.11 - 17602183 Apr 27, 2021 (155)
42 UK 10K study - Twins NC_000001.10 - 17928678 Oct 11, 2018 (152)
43 ALFA NC_000001.11 - 17602183 Apr 27, 2021 (155)
44 ClinVar RCV000908842.1 Apr 25, 2020 (154)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217405886, ss217411009, ss482155581 NC_000001.9:17801264:G:A NC_000001.11:17602182:G:A (self)
547836, 283456, 4533033, 204143, 27691, 9285, 154144, 700558, 283456, ss218259975, ss341939143, ss482617135, ss489724741, ss491287910, ss534936635, ss781820846, ss1289865385, ss1599635723, ss1642629756, ss1685350470, ss1710892533, ss1918112214, ss2322558790, ss2731191531, ss2746239653, ss2752191203, ss2984847521, ss3626037229, ss3653621252, ss3823568973, ss3825555445, ss3986103623, ss5142731251 NC_000001.10:17928677:G:A NC_000001.11:17602182:G:A (self)
RCV000908842.1, 3838195, 2704451, 4308076, 3986080834, ss2160377983, ss3069845261, ss3798907625, ss4440701741 NC_000001.11:17602182:G:A NC_000001.11:17602182:G:A (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 rs115180098

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