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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.

rs3218707

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:108244000 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.008304 (2198/264690, TOPMED)
C=0.002522 (626/248182, GnomAD_exome)
C=0.007571 (1053/139078, GnomAD) (+ 12 more)
C=0.001919 (211/109976, ALFA)
C=0.00381 (346/90710, ExAC)
C=0.01202 (946/78700, PAGE_STUDY)
C=0.00800 (104/12994, GO-ESP)
C=0.0111 (71/6404, 1000G_30x)
C=0.0114 (57/5008, 1000G)
C=0.0013 (5/3854, ALSPAC)
C=0.0016 (6/3708, TWINSUK)
C=0.002 (1/534, MGP)
C=0.009 (3/328, HapMap)
C=0.014 (3/216, Qatari)
G=0.3 (2/6, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ATM : Missense Variant
Publications
2 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 109976 G=0.998081 C=0.001919
European Sub 92268 G=0.99931 C=0.00069
African Sub 4358 G=0.9754 C=0.0246
African Others Sub 172 G=0.959 C=0.041
African American Sub 4186 G=0.9761 C=0.0239
Asian Sub 3310 G=1.0000 C=0.0000
East Asian Sub 2658 G=1.0000 C=0.0000
Other Asian Sub 652 G=1.000 C=0.000
Latin American 1 Sub 790 G=0.989 C=0.011
Latin American 2 Sub 944 G=0.997 C=0.003
South Asian Sub 272 G=1.000 C=0.000
Other Sub 8034 G=0.9965 C=0.0035


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=0.991696 C=0.008304
gnomAD - Exomes Global Study-wide 248182 G=0.997478 C=0.002522
gnomAD - Exomes European Sub 133230 G=0.999212 C=0.000788
gnomAD - Exomes Asian Sub 48620 G=0.99996 C=0.00004
gnomAD - Exomes American Sub 34258 G=0.99539 C=0.00461
gnomAD - Exomes African Sub 16074 G=0.97903 C=0.02097
gnomAD - Exomes Ashkenazi Jewish Sub 9966 G=0.9995 C=0.0005
gnomAD - Exomes Other Sub 6034 G=0.9969 C=0.0031
gnomAD - Genomes Global Study-wide 139078 G=0.992429 C=0.007571
gnomAD - Genomes European Sub 75442 G=0.99958 C=0.00042
gnomAD - Genomes African Sub 41550 G=0.97793 C=0.02207
gnomAD - Genomes American Sub 13524 G=0.99335 C=0.00665
gnomAD - Genomes Ashkenazi Jewish Sub 3310 G=0.9997 C=0.0003
gnomAD - Genomes East Asian Sub 3118 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2134 G=0.9939 C=0.0061
Allele Frequency Aggregator Total Global 109976 G=0.998081 C=0.001919
Allele Frequency Aggregator European Sub 92268 G=0.99931 C=0.00069
Allele Frequency Aggregator Other Sub 8034 G=0.9965 C=0.0035
Allele Frequency Aggregator African Sub 4358 G=0.9754 C=0.0246
Allele Frequency Aggregator Asian Sub 3310 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 944 G=0.997 C=0.003
Allele Frequency Aggregator Latin American 1 Sub 790 G=0.989 C=0.011
Allele Frequency Aggregator South Asian Sub 272 G=1.000 C=0.000
ExAC Global Study-wide 90710 G=0.99619 C=0.00381
ExAC Europe Sub 52274 G=0.99897 C=0.00103
ExAC Asian Sub 20818 G=0.99995 C=0.00005
ExAC African Sub 8810 G=0.9739 C=0.0261
ExAC American Sub 8058 G=0.9928 C=0.0072
ExAC Other Sub 750 G=0.996 C=0.004
The PAGE Study Global Study-wide 78700 G=0.98798 C=0.01202
The PAGE Study AfricanAmerican Sub 32516 G=0.97915 C=0.02085
The PAGE Study Mexican Sub 10808 G=0.99537 C=0.00463
The PAGE Study Asian Sub 8318 G=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9910 C=0.0090
The PAGE Study NativeHawaiian Sub 4534 G=0.9980 C=0.0020
The PAGE Study Cuban Sub 4230 G=0.9957 C=0.0043
The PAGE Study Dominican Sub 3828 G=0.9757 C=0.0243
The PAGE Study CentralAmerican Sub 2450 G=0.9935 C=0.0065
The PAGE Study SouthAmerican Sub 1982 G=0.9965 C=0.0035
The PAGE Study NativeAmerican Sub 1260 G=0.9968 C=0.0032
The PAGE Study SouthAsian Sub 856 G=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 12994 G=0.99200 C=0.00800
GO Exome Sequencing Project European American Sub 8594 G=0.9993 C=0.0007
GO Exome Sequencing Project African American Sub 4400 G=0.9777 C=0.0223
1000Genomes_30x Global Study-wide 6404 G=0.9889 C=0.0111
1000Genomes_30x African Sub 1786 G=0.9636 C=0.0364
1000Genomes_30x Europe Sub 1266 G=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 C=0.0000
1000Genomes_30x American Sub 980 G=0.994 C=0.006
1000Genomes Global Study-wide 5008 G=0.9886 C=0.0114
1000Genomes African Sub 1322 G=0.9607 C=0.0393
1000Genomes East Asian Sub 1008 G=1.0000 C=0.0000
1000Genomes Europe Sub 1006 G=1.0000 C=0.0000
1000Genomes South Asian Sub 978 G=1.000 C=0.000
1000Genomes American Sub 694 G=0.993 C=0.007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9987 C=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9984 C=0.0016
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 C=0.002
HapMap Global Study-wide 328 G=0.991 C=0.009
HapMap African Sub 120 G=0.975 C=0.025
HapMap American Sub 120 G=1.000 C=0.000
HapMap Asian Sub 88 G=1.00 C=0.00
Qatari Global Study-wide 216 G=0.986 C=0.014
SGDP_PRJ Global Study-wide 6 G=0.3 C=0.7
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 11 NC_000011.10:g.108244000G>A
GRCh38.p14 chr 11 NC_000011.10:g.108244000G>C
GRCh37.p13 chr 11 NC_000011.9:g.108114727G>A
GRCh37.p13 chr 11 NC_000011.9:g.108114727G>C
ATM RefSeqGene (LRG_135) NG_009830.1:g.26169G>A
ATM RefSeqGene (LRG_135) NG_009830.1:g.26169G>C
Gene: ATM, ATM serine/threonine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATM transcript variant 3 NM_001351835.2:c. N/A Genic Downstream Transcript Variant
ATM transcript variant 4 NM_001351836.2:c. N/A Genic Downstream Transcript Variant
ATM transcript variant 1 NM_001351834.2:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform a NP_001338763.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant 1 NM_001351834.2:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform a NP_001338763.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant 2 NM_000051.4:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform a NP_000042.3:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant 2 NM_000051.4:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform a NP_000042.3:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X12 XM_011542844.4:c.-501= N/A 5 Prime UTR Variant
ATM transcript variant X13 XM_006718845.3:c. N/A Genic Upstream Transcript Variant
ATM transcript variant X1 XM_006718843.5:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_006718906.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X1 XM_006718843.5:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_006718906.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X2 XM_047426975.1:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_047282931.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X2 XM_047426975.1:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_047282931.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X3 XM_005271562.6:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_005271619.2:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X3 XM_005271562.6:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_005271619.2:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X4 XM_011542840.4:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_011541142.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X4 XM_011542840.4:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_011541142.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X5 XM_017017790.3:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_016873279.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X5 XM_017017790.3:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_016873279.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X6 XM_047426976.1:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_047282932.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X6 XM_047426976.1:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X1 XP_047282932.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X7 XM_011542842.4:c.379G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_011541144.1:p.Val127Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X7 XM_011542842.4:c.379G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_011541144.1:p.Val127Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X8 XM_047426977.1:c.379G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282933.1:p.Val127Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X8 XM_047426977.1:c.379G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282933.1:p.Val127Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X9 XM_047426978.1:c.379G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282934.1:p.Val127Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X9 XM_047426978.1:c.379G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282934.1:p.Val127Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X10 XM_047426979.1:c.379G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282935.1:p.Val127Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X10 XM_047426979.1:c.379G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X2 XP_047282935.1:p.Val127Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X11 XM_011542843.3:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X3 XP_011541145.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X11 XM_011542843.3:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X3 XP_011541145.1:p.Val182Leu V (Val) > L (Leu) Missense Variant
ATM transcript variant X14 XM_047426981.1:c.544G>A V [GTT] > I [ATT] Coding Sequence Variant
serine-protein kinase ATM isoform X6 XP_047282937.1:p.Val182Ile V (Val) > I (Ile) Missense Variant
ATM transcript variant X14 XM_047426981.1:c.544G>C V [GTT] > L [CTT] Coding Sequence Variant
serine-protein kinase ATM isoform X6 XP_047282937.1:p.Val182Leu V (Val) > L (Leu) 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.

Allele: A (allele ID: 994178 )
ClinVar Accession Disease Names Clinical Significance
RCV001303854.4 Ataxia-telangiectasia syndrome Uncertain-Significance
Allele: C (allele ID: 136433 )
ClinVar Accession Disease Names Clinical Significance
RCV000119106.20 Ataxia-telangiectasia syndrome Benign-Likely-Benign
RCV000120166.8 not specified Benign
RCV000131001.8 Hereditary cancer-predisposing syndrome Benign-Likely-Benign
RCV000223988.10 not provided Benign
RCV001354360.2 Malignant tumor of breast Benign
RCV002225343.2 Hereditary breast ovarian cancer syndrome Benign
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 C
GRCh38.p14 chr 11 NC_000011.10:g.108244000= NC_000011.10:g.108244000G>A NC_000011.10:g.108244000G>C
GRCh37.p13 chr 11 NC_000011.9:g.108114727= NC_000011.9:g.108114727G>A NC_000011.9:g.108114727G>C
ATM RefSeqGene (LRG_135) NG_009830.1:g.26169= NG_009830.1:g.26169G>A NG_009830.1:g.26169G>C
ATM transcript variant 2 NM_000051.4:c.544= NM_000051.4:c.544G>A NM_000051.4:c.544G>C
ATM transcript variant 2 NM_000051.3:c.544= NM_000051.3:c.544G>A NM_000051.3:c.544G>C
ATM transcript variant 1 NM_001351834.2:c.544= NM_001351834.2:c.544G>A NM_001351834.2:c.544G>C
ATM transcript variant 1 NM_001351834.1:c.544= NM_001351834.1:c.544G>A NM_001351834.1:c.544G>C
ATM transcript variant X3 XM_005271562.6:c.544= XM_005271562.6:c.544G>A XM_005271562.6:c.544G>C
ATM transcript variant X4 XM_005271562.5:c.544= XM_005271562.5:c.544G>A XM_005271562.5:c.544G>C
ATM transcript variant X5 XM_005271562.4:c.544= XM_005271562.4:c.544G>A XM_005271562.4:c.544G>C
ATM transcript variant X4 XM_005271562.3:c.544= XM_005271562.3:c.544G>A XM_005271562.3:c.544G>C
ATM transcript variant X2 XM_005271562.2:c.544= XM_005271562.2:c.544G>A XM_005271562.2:c.544G>C
ATM transcript variant X2 XM_005271562.1:c.544= XM_005271562.1:c.544G>A XM_005271562.1:c.544G>C
ATM transcript variant X1 XM_006718843.5:c.544= XM_006718843.5:c.544G>A XM_006718843.5:c.544G>C
ATM transcript variant X2 XM_006718843.4:c.544= XM_006718843.4:c.544G>A XM_006718843.4:c.544G>C
ATM transcript variant X3 XM_006718843.3:c.544= XM_006718843.3:c.544G>A XM_006718843.3:c.544G>C
ATM transcript variant X5 XM_006718843.2:c.544= XM_006718843.2:c.544G>A XM_006718843.2:c.544G>C
ATM transcript variant X5 XM_006718843.1:c.544= XM_006718843.1:c.544G>A XM_006718843.1:c.544G>C
ATM transcript variant X4 XM_011542840.4:c.544= XM_011542840.4:c.544G>A XM_011542840.4:c.544G>C
ATM transcript variant X1 XM_011542840.3:c.544= XM_011542840.3:c.544G>A XM_011542840.3:c.544G>C
ATM transcript variant X2 XM_011542840.2:c.544= XM_011542840.2:c.544G>A XM_011542840.2:c.544G>C
ATM transcript variant X2 XM_011542840.1:c.544= XM_011542840.1:c.544G>A XM_011542840.1:c.544G>C
ATM transcript variant X7 XM_011542842.4:c.379= XM_011542842.4:c.379G>A XM_011542842.4:c.379G>C
ATM transcript variant X6 XM_011542842.3:c.379= XM_011542842.3:c.379G>A XM_011542842.3:c.379G>C
ATM transcript variant X7 XM_011542842.2:c.379= XM_011542842.2:c.379G>A XM_011542842.2:c.379G>C
ATM transcript variant X6 XM_011542842.1:c.379= XM_011542842.1:c.379G>A XM_011542842.1:c.379G>C
ATM transcript variant X12 XM_011542844.4:c.-501= XM_011542844.4:c.-501G>A XM_011542844.4:c.-501G>C
ATM transcript variant X8 XM_011542844.3:c.-501= XM_011542844.3:c.-501G>A XM_011542844.3:c.-501G>C
ATM transcript variant X9 XM_011542844.2:c.-501= XM_011542844.2:c.-501G>A XM_011542844.2:c.-501G>C
ATM transcript variant X8 XM_011542844.1:c.-501= XM_011542844.1:c.-501G>A XM_011542844.1:c.-501G>C
ATM transcript variant X5 XM_017017790.3:c.544= XM_017017790.3:c.544G>A XM_017017790.3:c.544G>C
ATM transcript variant X5 XM_017017790.2:c.544= XM_017017790.2:c.544G>A XM_017017790.2:c.544G>C
ATM transcript variant X6 XM_017017790.1:c.544= XM_017017790.1:c.544G>A XM_017017790.1:c.544G>C
ATM transcript variant X11 XM_011542843.3:c.544= XM_011542843.3:c.544G>A XM_011542843.3:c.544G>C
ATM transcript variant X7 XM_011542843.2:c.544= XM_011542843.2:c.544G>A XM_011542843.2:c.544G>C
ATM transcript variant X7 XM_011542843.1:c.544= XM_011542843.1:c.544G>A XM_011542843.1:c.544G>C
ATM transcript variant X8 XM_047426977.1:c.379= XM_047426977.1:c.379G>A XM_047426977.1:c.379G>C
ATM transcript variant X2 XM_047426975.1:c.544= XM_047426975.1:c.544G>A XM_047426975.1:c.544G>C
ATM transcript variant X10 XM_047426979.1:c.379= XM_047426979.1:c.379G>A XM_047426979.1:c.379G>C
ATM transcript variant X6 XM_047426976.1:c.544= XM_047426976.1:c.544G>A XM_047426976.1:c.544G>C
ATM transcript variant X9 XM_047426978.1:c.379= XM_047426978.1:c.379G>A XM_047426978.1:c.379G>C
ATM transcript variant X14 XM_047426981.1:c.544= XM_047426981.1:c.544G>A XM_047426981.1:c.544G>C
serine-protein kinase ATM isoform a NP_000042.3:p.Val182= NP_000042.3:p.Val182Ile NP_000042.3:p.Val182Leu
serine-protein kinase ATM isoform a NP_001338763.1:p.Val182= NP_001338763.1:p.Val182Ile NP_001338763.1:p.Val182Leu
serine-protein kinase ATM isoform X1 XP_005271619.2:p.Val182= XP_005271619.2:p.Val182Ile XP_005271619.2:p.Val182Leu
serine-protein kinase ATM isoform X1 XP_006718906.1:p.Val182= XP_006718906.1:p.Val182Ile XP_006718906.1:p.Val182Leu
serine-protein kinase ATM isoform X1 XP_011541142.1:p.Val182= XP_011541142.1:p.Val182Ile XP_011541142.1:p.Val182Leu
serine-protein kinase ATM isoform X2 XP_011541144.1:p.Val127= XP_011541144.1:p.Val127Ile XP_011541144.1:p.Val127Leu
serine-protein kinase ATM isoform X1 XP_016873279.1:p.Val182= XP_016873279.1:p.Val182Ile XP_016873279.1:p.Val182Leu
serine-protein kinase ATM isoform X3 XP_011541145.1:p.Val182= XP_011541145.1:p.Val182Ile XP_011541145.1:p.Val182Leu
serine-protein kinase ATM isoform X2 XP_047282933.1:p.Val127= XP_047282933.1:p.Val127Ile XP_047282933.1:p.Val127Leu
serine-protein kinase ATM isoform X1 XP_047282931.1:p.Val182= XP_047282931.1:p.Val182Ile XP_047282931.1:p.Val182Leu
serine-protein kinase ATM isoform X2 XP_047282935.1:p.Val127= XP_047282935.1:p.Val127Ile XP_047282935.1:p.Val127Leu
serine-protein kinase ATM isoform X1 XP_047282932.1:p.Val182= XP_047282932.1:p.Val182Ile XP_047282932.1:p.Val182Leu
serine-protein kinase ATM isoform X2 XP_047282934.1:p.Val127= XP_047282934.1:p.Val127Ile XP_047282934.1:p.Val127Leu
serine-protein kinase ATM isoform X6 XP_047282937.1:p.Val182= XP_047282937.1:p.Val182Ile XP_047282937.1:p.Val182Leu
serine-protein kinase ATM isoform X2 XP_005271619.1:p.Val182= XP_005271619.1:p.Val182Ile XP_005271619.1:p.Val182Leu
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#.

60 SubSNP, 15 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 UWGC ss4479916 Jul 03, 2002 (106)
2 PERLEGEN ss69328307 May 18, 2007 (127)
3 AFFY ss74811075 Aug 16, 2007 (128)
4 ILLUMINA ss244294381 Jul 04, 2010 (132)
5 1000GENOMES ss336972953 May 09, 2011 (134)
6 NHLBI-ESP ss342339638 May 09, 2011 (134)
7 1000GENOMES ss491028585 May 04, 2012 (137)
8 EXOME_CHIP ss491458656 May 04, 2012 (137)
9 ILLUMINA ss533573371 Sep 08, 2015 (146)
10 TISHKOFF ss562813753 Apr 25, 2013 (138)
11 ILLUMINA ss780903634 Sep 08, 2015 (146)
12 ILLUMINA ss783590860 Sep 08, 2015 (146)
13 1000GENOMES ss1342879620 Aug 21, 2014 (142)
14 CLINVAR ss1457609091 Nov 23, 2014 (142)
15 EVA_UK10K_ALSPAC ss1627415724 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1670409757 Apr 01, 2015 (144)
17 EVA_EXAC ss1690620857 Apr 01, 2015 (144)
18 EVA_MGP ss1711307969 Apr 01, 2015 (144)
19 ILLUMINA ss1751993107 Sep 08, 2015 (146)
20 ILLUMINA ss1917866027 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1932303392 Feb 12, 2016 (147)
22 ILLUMINA ss1946321971 Feb 12, 2016 (147)
23 ILLUMINA ss1959383669 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2185526224 Dec 20, 2016 (150)
25 ILLUMINA ss2710745085 Nov 08, 2017 (151)
26 GNOMAD ss2739369468 Nov 08, 2017 (151)
27 GNOMAD ss2748734176 Nov 08, 2017 (151)
28 GNOMAD ss2904215847 Nov 08, 2017 (151)
29 AFFY ss2984955788 Nov 08, 2017 (151)
30 ILLUMINA ss3021373966 Nov 08, 2017 (151)
31 ILLUMINA ss3626745491 Oct 12, 2018 (152)
32 ILLUMINA ss3626745492 Oct 12, 2018 (152)
33 ILLUMINA ss3634474278 Oct 12, 2018 (152)
34 ILLUMINA ss3640181614 Oct 12, 2018 (152)
35 ILLUMINA ss3644574827 Oct 12, 2018 (152)
36 ILLUMINA ss3651741106 Oct 12, 2018 (152)
37 ILLUMINA ss3653728515 Oct 12, 2018 (152)
38 ILLUMINA ss3725274427 Jul 13, 2019 (153)
39 ILLUMINA ss3744387011 Jul 13, 2019 (153)
40 ILLUMINA ss3744775059 Jul 13, 2019 (153)
41 PAGE_CC ss3771651031 Jul 13, 2019 (153)
42 ILLUMINA ss3772274838 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3815118887 Jul 13, 2019 (153)
44 EVA ss3824668856 Apr 26, 2020 (154)
45 EVA ss3825808737 Apr 26, 2020 (154)
46 EVA ss3832830136 Apr 26, 2020 (154)
47 SGDP_PRJ ss3877096269 Apr 26, 2020 (154)
48 EVA ss3986544321 Apr 27, 2021 (155)
49 TOPMED ss4899215451 Apr 27, 2021 (155)
50 1000G_HIGH_COVERAGE ss5288828944 Oct 16, 2022 (156)
51 EVA ss5402106805 Oct 16, 2022 (156)
52 HUGCELL_USP ss5483824672 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5585276256 Oct 16, 2022 (156)
54 EVA ss5623892811 Oct 16, 2022 (156)
55 SANFORD_IMAGENETICS ss5652032010 Oct 16, 2022 (156)
56 EVA ss5847647052 Oct 16, 2022 (156)
57 EVA ss5921570247 Oct 16, 2022 (156)
58 EVA ss5936063640 Oct 16, 2022 (156)
59 EVA ss5943358289 Oct 16, 2022 (156)
60 EVA ss5981325872 Oct 16, 2022 (156)
61 1000Genomes NC_000011.9 - 108114727 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000011.10 - 108244000 Oct 16, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 108114727 Oct 12, 2018 (152)
64 ExAC NC_000011.9 - 108114727 Oct 12, 2018 (152)
65 gnomAD - Genomes NC_000011.10 - 108244000 Apr 27, 2021 (155)
66 gnomAD - Exomes NC_000011.9 - 108114727 Jul 13, 2019 (153)
67 GO Exome Sequencing Project NC_000011.9 - 108114727 Oct 12, 2018 (152)
68 HapMap NC_000011.10 - 108244000 Apr 26, 2020 (154)
69 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 108114727 Apr 26, 2020 (154)
70 The PAGE Study NC_000011.10 - 108244000 Jul 13, 2019 (153)
71 Qatari NC_000011.9 - 108114727 Apr 26, 2020 (154)
72 SGDP_PRJ NC_000011.9 - 108114727 Apr 26, 2020 (154)
73 TopMed NC_000011.10 - 108244000 Apr 27, 2021 (155)
74 UK 10K study - Twins NC_000011.9 - 108114727 Oct 12, 2018 (152)
75 ALFA NC_000011.10 - 108244000 Apr 27, 2021 (155)
76 ClinVar RCV000119106.20 Oct 16, 2022 (156)
77 ClinVar RCV000120166.8 Oct 16, 2022 (156)
78 ClinVar RCV000131001.8 Oct 16, 2022 (156)
79 ClinVar RCV000223988.10 Oct 16, 2022 (156)
80 ClinVar RCV001303854.4 Oct 16, 2022 (156)
81 ClinVar RCV001354360.2 Oct 16, 2022 (156)
82 ClinVar RCV002225343.2 Oct 16, 2022 (156)
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)
rs52838294 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5936063640 NC_000011.9:108114726:G:A NC_000011.10:108243999:G:A
RCV001303854.4 NC_000011.10:108243999:G:A NC_000011.10:108243999:G:A (self)
ss244294381 NC_000011.8:107619936:G:C NC_000011.10:108243999:G:C (self)
55458893, 30780553, 895730, 8587304, 1126396, 423729, 14345322, 29113249, 30780553, ss336972953, ss342339638, ss491028585, ss491458656, ss533573371, ss562813753, ss780903634, ss783590860, ss1342879620, ss1627415724, ss1670409757, ss1690620857, ss1711307969, ss1751993107, ss1917866027, ss1932303392, ss1946321971, ss1959383669, ss2710745085, ss2739369468, ss2748734176, ss2904215847, ss2984955788, ss3021373966, ss3626745491, ss3626745492, ss3634474278, ss3640181614, ss3644574827, ss3651741106, ss3653728515, ss3744387011, ss3744775059, ss3772274838, ss3824668856, ss3825808737, ss3832830136, ss3877096269, ss3986544321, ss5402106805, ss5623892811, ss5652032010, ss5847647052, ss5936063640, ss5943358289 NC_000011.9:108114726:G:C NC_000011.10:108243999:G:C (self)
RCV000119106.20, RCV000120166.8, RCV000131001.8, RCV000223988.10, RCV001354360.2, RCV002225343.2, 72802191, 391344689, 694519, 872500, 114761107, 4929151513, ss1457609091, ss2185526224, ss3725274427, ss3771651031, ss3815118887, ss4899215451, ss5288828944, ss5483824672, ss5585276256, ss5921570247, ss5981325872 NC_000011.10:108243999:G:C NC_000011.10:108243999:G:C (self)
ss4479916, ss69328307, ss74811075 NT_033899.8:11677142:G:C NC_000011.10:108243999:G:C (self)
Help

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

2 citations for rs3218707
PMID Title Author Year Journal
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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