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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.

rs56107536

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:79074958 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.128770 (34084/264690, TOPMED)
A=0.116501 (16294/139862, GnomAD)
A=0.20304 (9282/45716, GnomAD_exome) (+ 19 more)
A=0.27744 (9887/35636, ExAC)
A=0.29373 (8295/28240, 14KJPN)
A=0.12678 (3163/24948, ALFA)
A=0.29056 (4868/16754, 8.3KJPN)
A=0.0846 (757/8944, GO-ESP)
A=0.1610 (1031/6404, 1000G_30x)
A=0.1643 (823/5008, 1000G)
A=0.1656 (742/4480, Estonian)
A=0.1386 (534/3854, ALSPAC)
A=0.1378 (511/3708, TWINSUK)
A=0.3003 (842/2804, KOREAN)
A=0.3411 (603/1768, Korea1K)
A=0.140 (84/600, NorthernSweden)
A=0.023 (5/216, Qatari)
A=0.292 (62/212, Vietnamese)
C=0.367 (66/180, SGDP_PRJ)
A=0.10 (4/40, GENOME_DK)
C=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ENGASE : 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 24948 C=0.87322 A=0.12678, G=0.00000
European Sub 20146 C=0.86742 A=0.13258, G=0.00000
African Sub 2902 C=0.9693 A=0.0307, G=0.0000
African Others Sub 114 C=0.965 A=0.035, G=0.000
African American Sub 2788 C=0.9695 A=0.0305, G=0.0000
Asian Sub 112 C=0.830 A=0.170, G=0.000
East Asian Sub 86 C=0.81 A=0.19, G=0.00
Other Asian Sub 26 C=0.88 A=0.12, G=0.00
Latin American 1 Sub 146 C=0.870 A=0.130, G=0.000
Latin American 2 Sub 610 C=0.662 A=0.338, G=0.000
South Asian Sub 98 C=0.78 A=0.22, G=0.00
Other Sub 934 C=0.853 A=0.147, G=0.000


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=0.871230 A=0.128770
gnomAD - Genomes Global Study-wide 139862 C=0.883499 A=0.116501
gnomAD - Genomes European Sub 75680 C=0.87007 A=0.12993
gnomAD - Genomes African Sub 41980 C=0.96193 A=0.03807
gnomAD - Genomes American Sub 13614 C=0.74974 A=0.25026
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.8968 A=0.1032
gnomAD - Genomes East Asian Sub 3118 C=0.7287 A=0.2713
gnomAD - Genomes Other Sub 2146 C=0.8756 A=0.1244
gnomAD - Exomes Global Study-wide 45716 C=0.79696 A=0.20304
gnomAD - Exomes European Sub 28994 C=0.84397 A=0.15603
gnomAD - Exomes Asian Sub 7436 C=0.7148 A=0.2852
gnomAD - Exomes American Sub 4826 C=0.5162 A=0.4838
gnomAD - Exomes African Sub 3104 C=0.9639 A=0.0361
gnomAD - Exomes Other Sub 758 C=0.844 A=0.156
gnomAD - Exomes Ashkenazi Jewish Sub 598 C=0.880 A=0.120
ExAC Global Study-wide 35636 C=0.72256 A=0.27744
ExAC Europe Sub 21510 C=0.78247 A=0.21753
ExAC Asian Sub 6904 C=0.6476 A=0.3524
ExAC American Sub 4898 C=0.4649 A=0.5351
ExAC African Sub 2122 C=0.9477 A=0.0523
ExAC Other Sub 202 C=0.787 A=0.213
14KJPN JAPANESE Study-wide 28240 C=0.70627 A=0.29373
Allele Frequency Aggregator Total Global 24948 C=0.87322 A=0.12678, G=0.00000
Allele Frequency Aggregator European Sub 20146 C=0.86742 A=0.13258, G=0.00000
Allele Frequency Aggregator African Sub 2902 C=0.9693 A=0.0307, G=0.0000
Allele Frequency Aggregator Other Sub 934 C=0.853 A=0.147, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.662 A=0.338, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.870 A=0.130, G=0.000
Allele Frequency Aggregator Asian Sub 112 C=0.830 A=0.170, G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=0.78 A=0.22, G=0.00
8.3KJPN JAPANESE Study-wide 16754 C=0.70944 A=0.29056
GO Exome Sequencing Project Global Study-wide 8944 C=0.9154 A=0.0846
GO Exome Sequencing Project European American Sub 6272 C=0.8949 A=0.1051
GO Exome Sequencing Project African American Sub 2672 C=0.9633 A=0.0367
1000Genomes_30x Global Study-wide 6404 C=0.8390 A=0.1610
1000Genomes_30x African Sub 1786 C=0.9832 A=0.0168
1000Genomes_30x Europe Sub 1266 C=0.8878 A=0.1122
1000Genomes_30x South Asian Sub 1202 C=0.7978 A=0.2022
1000Genomes_30x East Asian Sub 1170 C=0.7188 A=0.2812
1000Genomes_30x American Sub 980 C=0.707 A=0.293
1000Genomes Global Study-wide 5008 C=0.8357 A=0.1643
1000Genomes African Sub 1322 C=0.9841 A=0.0159
1000Genomes East Asian Sub 1008 C=0.7083 A=0.2917
1000Genomes Europe Sub 1006 C=0.8857 A=0.1143
1000Genomes South Asian Sub 978 C=0.806 A=0.194
1000Genomes American Sub 694 C=0.707 A=0.293
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8344 A=0.1656
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8614 A=0.1386
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8622 A=0.1378
KOREAN population from KRGDB KOREAN Study-wide 2804 C=0.6997 A=0.3003
Korean Genome Project KOREAN Study-wide 1768 C=0.6589 A=0.3411
Northern Sweden ACPOP Study-wide 600 C=0.860 A=0.140
Qatari Global Study-wide 216 C=0.977 A=0.023
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.708 A=0.292
SGDP_PRJ Global Study-wide 180 C=0.367 A=0.633
The Danish reference pan genome Danish Study-wide 40 C=0.90 A=0.10
Siberian Global Study-wide 16 C=0.50 A=0.50
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 17 NC_000017.11:g.79074958C>A
GRCh38.p14 chr 17 NC_000017.11:g.79074958C>G
GRCh37.p13 chr 17 NC_000017.10:g.77071040C>A
GRCh37.p13 chr 17 NC_000017.10:g.77071040C>G
Gene: ENGASE, endo-beta-N-acetylglucosaminidase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ENGASE transcript variant 4 NM_001042573.3:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 4 NP_001036038.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant 4 NM_001042573.3:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 4 NP_001036038.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant 5 NM_001396055.1:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 5 NP_001382984.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant 5 NM_001396055.1:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 5 NP_001382984.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant 2 NM_001396053.1:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 2 NP_001382982.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant 2 NM_001396053.1:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 2 NP_001382982.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant 1 NM_001396052.1:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 1 NP_001382981.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant 1 NM_001396052.1:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 1 NP_001382981.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant 3 NM_001396054.1:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 3 NP_001382983.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant 3 NM_001396054.1:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform 3 NP_001382983.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant X11 XM_047436548.1:c.-373= N/A 5 Prime UTR Variant
ENGASE transcript variant X14 XM_006722018.4:c. N/A Genic Upstream Transcript Variant
ENGASE transcript variant X12 XM_047436550.1:c. N/A Genic Upstream Transcript Variant
ENGASE transcript variant X13 XM_047436551.1:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform X3 XP_047292507.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant X13 XM_047436551.1:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform X3 XP_047292507.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant X17 XM_006722019.4:c.14C>A A [GCG] > E [GAG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform X5 XP_006722082.1:p.Ala5Glu A (Ala) > E (Glu) Missense Variant
ENGASE transcript variant X17 XM_006722019.4:c.14C>G A [GCG] > G [GGG] Coding Sequence Variant
cytosolic endo-beta-N-acetylglucosaminidase isoform X5 XP_006722082.1:p.Ala5Gly A (Ala) > G (Gly) Missense Variant
ENGASE transcript variant X1 XR_007065426.1:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X1 XR_007065426.1:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X2 XR_007065427.1:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X2 XR_007065427.1:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X3 XR_007065428.1:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X3 XR_007065428.1:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X4 XR_007065429.1:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X4 XR_007065429.1:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X5 XR_007065430.1:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X5 XR_007065430.1:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X6 XR_429918.2:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X6 XR_429918.2:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X7 XR_934534.2:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X7 XR_934534.2:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X8 XR_429919.2:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X8 XR_429919.2:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X9 XR_934536.2:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X9 XR_934536.2:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X10 XR_934535.2:n.135C>A N/A Non Coding Transcript Variant
ENGASE transcript variant X10 XR_934535.2:n.135C>G N/A Non Coding Transcript Variant
ENGASE transcript variant X15 XR_007065431.1:n. N/A Genic Upstream Transcript Variant
ENGASE transcript variant X16 XR_007065432.1:n. N/A Genic Upstream 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
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
GRCh38.p14 chr 17 NC_000017.11:g.79074958= NC_000017.11:g.79074958C>A NC_000017.11:g.79074958C>G
GRCh37.p13 chr 17 NC_000017.10:g.77071040= NC_000017.10:g.77071040C>A NC_000017.10:g.77071040C>G
ENGASE transcript variant X17 XM_006722019.4:c.14= XM_006722019.4:c.14C>A XM_006722019.4:c.14C>G
ENGASE transcript variant X11 XM_006722019.3:c.14= XM_006722019.3:c.14C>A XM_006722019.3:c.14C>G
ENGASE transcript variant X11 XM_006722019.2:c.14= XM_006722019.2:c.14C>A XM_006722019.2:c.14C>G
ENGASE transcript variant X5 XM_006722019.1:c.14= XM_006722019.1:c.14C>A XM_006722019.1:c.14C>G
ENGASE transcript variant 4 NM_001042573.3:c.14= NM_001042573.3:c.14C>A NM_001042573.3:c.14C>G
ENGASE transcript NM_001042573.2:c.14= NM_001042573.2:c.14C>A NM_001042573.2:c.14C>G
ENGASE transcript variant X7 XR_934534.2:n.135= XR_934534.2:n.135C>A XR_934534.2:n.135C>G
ENGASE transcript variant X2 XR_934534.1:n.147= XR_934534.1:n.147C>A XR_934534.1:n.147C>G
ENGASE transcript variant X8 XR_429919.2:n.135= XR_429919.2:n.135C>A XR_429919.2:n.135C>G
ENGASE transcript variant X3 XR_429919.1:n.147= XR_429919.1:n.147C>A XR_429919.1:n.147C>G
ENGASE transcript variant X10 XR_934535.2:n.135= XR_934535.2:n.135C>A XR_934535.2:n.135C>G
ENGASE transcript variant X4 XR_934535.1:n.147= XR_934535.1:n.147C>A XR_934535.1:n.147C>G
ENGASE transcript variant X6 XR_429918.2:n.135= XR_429918.2:n.135C>A XR_429918.2:n.135C>G
ENGASE transcript variant X1 XR_429918.1:n.147= XR_429918.1:n.147C>A XR_429918.1:n.147C>G
ENGASE transcript variant X9 XR_934536.2:n.135= XR_934536.2:n.135C>A XR_934536.2:n.135C>G
ENGASE transcript variant X5 XR_934536.1:n.147= XR_934536.1:n.147C>A XR_934536.1:n.147C>G
ENGASE transcript variant 1 NM_001396052.1:c.14= NM_001396052.1:c.14C>A NM_001396052.1:c.14C>G
ENGASE transcript variant 2 NM_001396053.1:c.14= NM_001396053.1:c.14C>A NM_001396053.1:c.14C>G
ENGASE transcript variant X11 XM_047436548.1:c.-373= XM_047436548.1:c.-373C>A XM_047436548.1:c.-373C>G
ENGASE transcript variant 3 NM_001396054.1:c.14= NM_001396054.1:c.14C>A NM_001396054.1:c.14C>G
ENGASE transcript variant X2 XR_007065427.1:n.135= XR_007065427.1:n.135C>A XR_007065427.1:n.135C>G
ENGASE transcript variant X3 XR_007065428.1:n.135= XR_007065428.1:n.135C>A XR_007065428.1:n.135C>G
ENGASE transcript variant 5 NM_001396055.1:c.14= NM_001396055.1:c.14C>A NM_001396055.1:c.14C>G
ENGASE transcript variant X5 XR_007065430.1:n.135= XR_007065430.1:n.135C>A XR_007065430.1:n.135C>G
ENGASE transcript variant X1 XR_007065426.1:n.135= XR_007065426.1:n.135C>A XR_007065426.1:n.135C>G
ENGASE transcript variant X4 XR_007065429.1:n.135= XR_007065429.1:n.135C>A XR_007065429.1:n.135C>G
FLJ21865 transcript NM_022759.1:c.14= NM_022759.1:c.14C>A NM_022759.1:c.14C>G
ENGASE transcript variant X13 XM_047436551.1:c.14= XM_047436551.1:c.14C>A XM_047436551.1:c.14C>G
cytosolic endo-beta-N-acetylglucosaminidase isoform X5 XP_006722082.1:p.Ala5= XP_006722082.1:p.Ala5Glu XP_006722082.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform 4 NP_001036038.1:p.Ala5= NP_001036038.1:p.Ala5Glu NP_001036038.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform 1 NP_001382981.1:p.Ala5= NP_001382981.1:p.Ala5Glu NP_001382981.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform 2 NP_001382982.1:p.Ala5= NP_001382982.1:p.Ala5Glu NP_001382982.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform 3 NP_001382983.1:p.Ala5= NP_001382983.1:p.Ala5Glu NP_001382983.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform 5 NP_001382984.1:p.Ala5= NP_001382984.1:p.Ala5Glu NP_001382984.1:p.Ala5Gly
cytosolic endo-beta-N-acetylglucosaminidase isoform X3 XP_047292507.1:p.Ala5= XP_047292507.1:p.Ala5Glu XP_047292507.1:p.Ala5Gly
ENGASE transcript variant X1 XM_005257586.1:c.-240-2472= XM_005257586.1:c.-240-2472C>A XM_005257586.1:c.-240-2472C>G
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#.

58 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss78035679 Dec 07, 2007 (129)
2 GMI ss154684083 Dec 01, 2009 (131)
3 SEATTLESEQ ss159736541 Dec 01, 2009 (131)
4 GMI ss282854979 May 04, 2012 (137)
5 1000GENOMES ss339869888 May 09, 2011 (134)
6 1000GENOMES ss491133628 May 04, 2012 (137)
7 EXOME_CHIP ss491529167 May 04, 2012 (137)
8 SSMP ss661243176 Apr 25, 2013 (138)
9 NHLBI-ESP ss713417444 Apr 25, 2013 (138)
10 EVA-GONL ss993367889 Aug 21, 2014 (142)
11 1000GENOMES ss1359672789 Aug 21, 2014 (142)
12 EVA_GENOME_DK ss1578258327 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1636173092 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1679167125 Apr 01, 2015 (144)
15 EVA_EXAC ss1693006997 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1936833094 Feb 12, 2016 (147)
17 JJLAB ss2029188162 Sep 14, 2016 (149)
18 USC_VALOUEV ss2157676682 Dec 20, 2016 (150)
19 HUMAN_LONGEVITY ss2218891316 Dec 20, 2016 (150)
20 SYSTEMSBIOZJU ss2629089847 Nov 08, 2017 (151)
21 GRF ss2702243437 Nov 08, 2017 (151)
22 GNOMAD ss2743073649 Nov 08, 2017 (151)
23 GNOMAD ss2749884958 Nov 08, 2017 (151)
24 GNOMAD ss2952829877 Nov 08, 2017 (151)
25 AFFY ss2985107255 Nov 08, 2017 (151)
26 SWEGEN ss3015959157 Nov 08, 2017 (151)
27 CSHL ss3351855953 Nov 08, 2017 (151)
28 ILLUMINA ss3653879424 Oct 12, 2018 (152)
29 EGCUT_WGS ss3682822766 Jul 13, 2019 (153)
30 EVA_DECODE ss3700981959 Jul 13, 2019 (153)
31 ACPOP ss3742245942 Jul 13, 2019 (153)
32 EVA ss3754974954 Jul 13, 2019 (153)
33 KHV_HUMAN_GENOMES ss3820238500 Jul 13, 2019 (153)
34 EVA ss3825162111 Apr 27, 2020 (154)
35 EVA ss3825909127 Apr 27, 2020 (154)
36 EVA ss3834995387 Apr 27, 2020 (154)
37 EVA ss3841110082 Apr 27, 2020 (154)
38 EVA ss3846608547 Apr 27, 2020 (154)
39 SGDP_PRJ ss3886286986 Apr 27, 2020 (154)
40 KRGDB ss3936071063 Apr 27, 2020 (154)
41 KOGIC ss3979363096 Apr 27, 2020 (154)
42 FSA-LAB ss3984125634 Apr 27, 2021 (155)
43 EVA ss3986745548 Apr 27, 2021 (155)
44 TOPMED ss5044891276 Apr 27, 2021 (155)
45 TOMMO_GENOMICS ss5223631662 Apr 27, 2021 (155)
46 EVA ss5236947510 Apr 27, 2021 (155)
47 1000G_HIGH_COVERAGE ss5304052203 Oct 16, 2022 (156)
48 EVA ss5429240759 Oct 16, 2022 (156)
49 HUGCELL_USP ss5497005674 Oct 16, 2022 (156)
50 1000G_HIGH_COVERAGE ss5608201705 Oct 16, 2022 (156)
51 SANFORD_IMAGENETICS ss5660608212 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5780225599 Oct 16, 2022 (156)
53 YY_MCH ss5816757869 Oct 16, 2022 (156)
54 EVA ss5834335346 Oct 16, 2022 (156)
55 EVA ss5848460515 Oct 16, 2022 (156)
56 EVA ss5851910827 Oct 16, 2022 (156)
57 EVA ss5914957641 Oct 16, 2022 (156)
58 EVA ss5952011885 Oct 16, 2022 (156)
59 1000Genomes NC_000017.10 - 77071040 Oct 12, 2018 (152)
60 1000Genomes_30x NC_000017.11 - 79074958 Oct 16, 2022 (156)
61 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 77071040 Oct 12, 2018 (152)
62 Genetic variation in the Estonian population NC_000017.10 - 77071040 Oct 12, 2018 (152)
63 ExAC NC_000017.10 - 77071040 Oct 12, 2018 (152)
64 The Danish reference pan genome NC_000017.10 - 77071040 Apr 27, 2020 (154)
65 gnomAD - Genomes NC_000017.11 - 79074958 Apr 27, 2021 (155)
66 gnomAD - Exomes NC_000017.10 - 77071040 Jul 13, 2019 (153)
67 GO Exome Sequencing Project NC_000017.10 - 77071040 Oct 12, 2018 (152)
68 KOREAN population from KRGDB NC_000017.10 - 77071040 Apr 27, 2020 (154)
69 Korean Genome Project NC_000017.11 - 79074958 Apr 27, 2020 (154)
70 Northern Sweden NC_000017.10 - 77071040 Jul 13, 2019 (153)
71 Qatari NC_000017.10 - 77071040 Apr 27, 2020 (154)
72 SGDP_PRJ NC_000017.10 - 77071040 Apr 27, 2020 (154)
73 Siberian NC_000017.10 - 77071040 Apr 27, 2020 (154)
74 8.3KJPN NC_000017.10 - 77071040 Apr 27, 2021 (155)
75 14KJPN NC_000017.11 - 79074958 Oct 16, 2022 (156)
76 TopMed NC_000017.11 - 79074958 Apr 27, 2021 (155)
77 UK 10K study - Twins NC_000017.10 - 77071040 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000017.10 - 77071040 Jul 13, 2019 (153)
79 ALFA NC_000017.11 - 79074958 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78035679, ss282854979 NC_000017.9:74582634:C:A NC_000017.11:79074957:C:A (self)
72954104, 40426698, 28561014, 3467571, 4456392, 12382016, 1619162, 43248457, 15530807, 18875016, 38303966, 10193036, 81600969, 40426698, 8934671, ss339869888, ss491133628, ss491529167, ss661243176, ss713417444, ss993367889, ss1359672789, ss1578258327, ss1636173092, ss1679167125, ss1693006997, ss1936833094, ss2029188162, ss2157676682, ss2629089847, ss2702243437, ss2743073649, ss2749884958, ss2952829877, ss2985107255, ss3015959157, ss3351855953, ss3653879424, ss3682822766, ss3742245942, ss3754974954, ss3825162111, ss3825909127, ss3834995387, ss3841110082, ss3886286986, ss3936071063, ss3984125634, ss3986745548, ss5223631662, ss5429240759, ss5660608212, ss5834335346, ss5848460515, ss5952011885 NC_000017.10:77071039:C:A NC_000017.11:79074957:C:A (self)
95727640, 514779623, 35741097, 114062703, 260436938, 888723821, ss2218891316, ss3700981959, ss3820238500, ss3846608547, ss3979363096, ss5044891276, ss5236947510, ss5304052203, ss5497005674, ss5608201705, ss5780225599, ss5816757869, ss5851910827, ss5914957641 NC_000017.11:79074957:C:A NC_000017.11:79074957:C:A (self)
ss154684083, ss159736541 NT_010783.15:42345191:C:A NC_000017.11:79074957:C:A (self)
888723821 NC_000017.11:79074957:C:G NC_000017.11:79074957:C: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 rs56107536

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