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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.

rs55892721

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:179108917 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.003281 (825/251444, GnomAD_exome)
A=0.002997 (420/140156, GnomAD)
A=0.003142 (381/121278, ExAC) (+ 14 more)
A=0.003951 (453/114658, ALFA)
A=0.00084 (66/78702, PAGE_STUDY)
A=0.00354 (46/13006, GO-ESP)
A=0.0008 (5/6404, 1000G_30x)
A=0.0008 (4/5008, 1000G)
A=0.0029 (13/4480, Estonian)
A=0.0034 (13/3854, ALSPAC)
A=0.0043 (16/3708, TWINSUK)
A=0.001 (1/998, GoNL)
A=0.004 (2/534, MGP)
A=0.003 (1/304, FINRISK)
A=0.005 (1/216, Qatari)
T=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABL2 : 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 114658 T=0.996049 A=0.003951, C=0.000000
European Sub 96902 T=0.99594 A=0.00406, C=0.00000
African Sub 4368 T=0.9991 A=0.0009, C=0.0000
African Others Sub 174 T=1.000 A=0.000, C=0.000
African American Sub 4194 T=0.9990 A=0.0010, C=0.0000
Asian Sub 3326 T=1.0000 A=0.0000, C=0.0000
East Asian Sub 2670 T=1.0000 A=0.0000, C=0.0000
Other Asian Sub 656 T=1.000 A=0.000, C=0.000
Latin American 1 Sub 790 T=0.996 A=0.004, C=0.000
Latin American 2 Sub 944 T=1.000 A=0.000, C=0.000
South Asian Sub 274 T=1.000 A=0.000, C=0.000
Other Sub 8054 T=0.9934 A=0.0066, C=0.0000


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
gnomAD - Exomes Global Study-wide 251444 T=0.996719 A=0.003281
gnomAD - Exomes European Sub 135382 T=0.995945 A=0.004055
gnomAD - Exomes Asian Sub 49006 T=0.99882 A=0.00118
gnomAD - Exomes American Sub 34590 T=0.99838 A=0.00162
gnomAD - Exomes African Sub 16252 T=0.99951 A=0.00049
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.98660 A=0.01340
gnomAD - Exomes Other Sub 6136 T=0.9969 A=0.0031
gnomAD - Genomes Global Study-wide 140156 T=0.997003 A=0.002997
gnomAD - Genomes European Sub 75912 T=0.99627 A=0.00373
gnomAD - Genomes African Sub 42012 T=0.99924 A=0.00076
gnomAD - Genomes American Sub 13630 T=0.99596 A=0.00404
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.9864 A=0.0136
gnomAD - Genomes East Asian Sub 3134 T=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2150 T=0.9981 A=0.0019
ExAC Global Study-wide 121278 T=0.996858 A=0.003142
ExAC Europe Sub 73250 T=0.99562 A=0.00438
ExAC Asian Sub 25156 T=0.99881 A=0.00119
ExAC American Sub 11574 T=0.99836 A=0.00164
ExAC African Sub 10394 T=0.99933 A=0.00067
ExAC Other Sub 904 T=0.996 A=0.004
Allele Frequency Aggregator Total Global 114658 T=0.996049 A=0.003951, C=0.000000
Allele Frequency Aggregator European Sub 96902 T=0.99594 A=0.00406, C=0.00000
Allele Frequency Aggregator Other Sub 8054 T=0.9934 A=0.0066, C=0.0000
Allele Frequency Aggregator African Sub 4368 T=0.9991 A=0.0009, C=0.0000
Allele Frequency Aggregator Asian Sub 3326 T=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 944 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 790 T=0.996 A=0.004, C=0.000
Allele Frequency Aggregator South Asian Sub 274 T=1.000 A=0.000, C=0.000
The PAGE Study Global Study-wide 78702 T=0.99916 A=0.00084
The PAGE Study AfricanAmerican Sub 32516 T=0.99938 A=0.00062
The PAGE Study Mexican Sub 10810 T=0.99880 A=0.00120
The PAGE Study Asian Sub 8318 T=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9989 A=0.0011
The PAGE Study NativeHawaiian Sub 4534 T=0.9987 A=0.0013
The PAGE Study Cuban Sub 4230 T=0.9986 A=0.0014
The PAGE Study Dominican Sub 3828 T=0.9987 A=0.0013
The PAGE Study CentralAmerican Sub 2450 T=0.9984 A=0.0016
The PAGE Study SouthAmerican Sub 1982 T=0.9990 A=0.0010
The PAGE Study NativeAmerican Sub 1260 T=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 T=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99646 A=0.00354
GO Exome Sequencing Project European American Sub 8600 T=0.9949 A=0.0051
GO Exome Sequencing Project African American Sub 4406 T=0.9995 A=0.0005
1000Genomes_30x Global Study-wide 6404 T=0.9992 A=0.0008
1000Genomes_30x African Sub 1786 T=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 T=0.9976 A=0.0024
1000Genomes_30x South Asian Sub 1202 T=0.9983 A=0.0017
1000Genomes_30x East Asian Sub 1170 T=1.0000 A=0.0000
1000Genomes_30x American Sub 980 T=1.000 A=0.000
1000Genomes Global Study-wide 5008 T=0.9992 A=0.0008
1000Genomes African Sub 1322 T=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 A=0.0000
1000Genomes Europe Sub 1006 T=0.9980 A=0.0020
1000Genomes South Asian Sub 978 T=0.998 A=0.002
1000Genomes American Sub 694 T=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9971 A=0.0029
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9966 A=0.0034
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9957 A=0.0043
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.999 A=0.001
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.996 A=0.004
FINRISK Finnish from FINRISK project Study-wide 304 T=0.997 A=0.003
Qatari Global Study-wide 216 T=0.995 A=0.005
Siberian Global Study-wide 2 T=0.5 A=0.5
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.179108917T>A
GRCh38.p14 chr 1 NC_000001.11:g.179108917T>C
GRCh37.p13 chr 1 NC_000001.10:g.179078052T>A
GRCh37.p13 chr 1 NC_000001.10:g.179078052T>C
ABL2 RefSeqGene NG_028242.1:g.125768A>T
ABL2 RefSeqGene NG_028242.1:g.125768A>G
Gene: ABL2, ABL proto-oncogene 2, non-receptor tyrosine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABL2 transcript variant d NM_001136000.3:c.2015-19A…

NM_001136000.3:c.2015-19A>T

 		N/A Intron Variant
ABL2 transcript variant g NM_001168237.2:c.2060-19A…

NM_001168237.2:c.2060-19A>T

 		N/A Intron Variant
ABL2 transcript variant h NM_001168238.2:c.1997-19A…

NM_001168238.2:c.1997-19A>T

 		N/A Intron Variant
ABL2 transcript variant i NM_001168239.2:c.1952-19A…

NM_001168239.2:c.1952-19A>T

 		N/A Intron Variant
ABL2 transcript variant e NM_001136001.2:c. N/A Genic Downstream Transcript Variant
ABL2 transcript variant b NM_007314.4:c.2350A>T T [ACA] > S [TCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform b NP_009298.1:p.Thr784Ser T (Thr) > S (Ser) Missense Variant
ABL2 transcript variant b NM_007314.4:c.2350A>G T [ACA] > A [GCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform b NP_009298.1:p.Thr784Ala T (Thr) > A (Ala) Missense Variant
ABL2 transcript variant c NM_005158.5:c.2305A>T T [ACA] > S [TCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform c NP_005149.4:p.Thr769Ser T (Thr) > S (Ser) Missense Variant
ABL2 transcript variant c NM_005158.5:c.2305A>G T [ACA] > A [GCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform c NP_005149.4:p.Thr769Ala T (Thr) > A (Ala) Missense Variant
ABL2 transcript variant f NM_001168236.2:c.2287A>T T [ACA] > S [TCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform f NP_001161708.1:p.Thr763Ser T (Thr) > S (Ser) Missense Variant
ABL2 transcript variant f NM_001168236.2:c.2287A>G T [ACA] > A [GCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform f NP_001161708.1:p.Thr763Ala T (Thr) > A (Ala) Missense Variant
ABL2 transcript variant X1 XM_017001035.2:c.2350A>T T [ACA] > S [TCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform X1 XP_016856524.1:p.Thr784Ser T (Thr) > S (Ser) Missense Variant
ABL2 transcript variant X1 XM_017001035.2:c.2350A>G T [ACA] > A [GCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform X1 XP_016856524.1:p.Thr784Ala T (Thr) > A (Ala) Missense Variant
ABL2 transcript variant X2 XM_005245088.3:c.2242A>T T [ACA] > S [TCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform X2 XP_005245145.1:p.Thr748Ser T (Thr) > S (Ser) Missense Variant
ABL2 transcript variant X2 XM_005245088.3:c.2242A>G T [ACA] > A [GCA] Coding Sequence Variant
tyrosine-protein kinase ABL2 isoform X2 XP_005245145.1:p.Thr748Ala T (Thr) > A (Ala) Missense Variant
ABL2 transcript variant X3 XR_007058798.1:n. N/A Genic Downstream Transcript Variant
ABL2 transcript variant X4 XR_921764.4:n. N/A Genic Downstream Transcript Variant
ABL2 transcript variant X5 XR_921765.2:n. N/A Genic Downstream 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: 718409 )
ClinVar Accession Disease Names Clinical Significance
RCV000888374.3 not provided Likely-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 T= A C
GRCh38.p14 chr 1 NC_000001.11:g.179108917= NC_000001.11:g.179108917T>A NC_000001.11:g.179108917T>C
GRCh37.p13 chr 1 NC_000001.10:g.179078052= NC_000001.10:g.179078052T>A NC_000001.10:g.179078052T>C
ABL2 RefSeqGene NG_028242.1:g.125768= NG_028242.1:g.125768A>T NG_028242.1:g.125768A>G
ABL2 transcript variant c NM_005158.5:c.2305= NM_005158.5:c.2305A>T NM_005158.5:c.2305A>G
ABL2 transcript variant c NM_005158.4:c.2305= NM_005158.4:c.2305A>T NM_005158.4:c.2305A>G
ABL2 transcript variant b NM_007314.4:c.2350= NM_007314.4:c.2350A>T NM_007314.4:c.2350A>G
ABL2 transcript variant b NM_007314.3:c.2350= NM_007314.3:c.2350A>T NM_007314.3:c.2350A>G
ABL2 transcript variant f NM_001168236.2:c.2287= NM_001168236.2:c.2287A>T NM_001168236.2:c.2287A>G
ABL2 transcript variant f NM_001168236.1:c.2287= NM_001168236.1:c.2287A>T NM_001168236.1:c.2287A>G
ABL2 transcript variant X2 XM_005245088.3:c.2242= XM_005245088.3:c.2242A>T XM_005245088.3:c.2242A>G
ABL2 transcript variant X2 XM_005245088.2:c.2242= XM_005245088.2:c.2242A>T XM_005245088.2:c.2242A>G
ABL2 transcript variant X1 XM_005245088.1:c.2242= XM_005245088.1:c.2242A>T XM_005245088.1:c.2242A>G
ABL2 transcript variant X1 XM_017001035.2:c.2350= XM_017001035.2:c.2350A>T XM_017001035.2:c.2350A>G
ABL2 transcript variant X1 XM_017001035.1:c.2350= XM_017001035.1:c.2350A>T XM_017001035.1:c.2350A>G
ABL2 transcript variant c NM_001100108.1:c.2305= NM_001100108.1:c.2305A>T NM_001100108.1:c.2305A>G
tyrosine-protein kinase ABL2 isoform c NP_005149.4:p.Thr769= NP_005149.4:p.Thr769Ser NP_005149.4:p.Thr769Ala
tyrosine-protein kinase ABL2 isoform b NP_009298.1:p.Thr784= NP_009298.1:p.Thr784Ser NP_009298.1:p.Thr784Ala
tyrosine-protein kinase ABL2 isoform f NP_001161708.1:p.Thr763= NP_001161708.1:p.Thr763Ser NP_001161708.1:p.Thr763Ala
tyrosine-protein kinase ABL2 isoform X2 XP_005245145.1:p.Thr748= XP_005245145.1:p.Thr748Ser XP_005245145.1:p.Thr748Ala
tyrosine-protein kinase ABL2 isoform X1 XP_016856524.1:p.Thr784= XP_016856524.1:p.Thr784Ser XP_016856524.1:p.Thr784Ala
ABL2 transcript variant d NM_001136000.2:c.2015-19= NM_001136000.2:c.2015-19A>T NM_001136000.2:c.2015-19A>G
ABL2 transcript variant d NM_001136000.3:c.2015-19= NM_001136000.3:c.2015-19A>T NM_001136000.3:c.2015-19A>G
ABL2 transcript variant g NM_001168237.1:c.2060-19= NM_001168237.1:c.2060-19A>T NM_001168237.1:c.2060-19A>G
ABL2 transcript variant g NM_001168237.2:c.2060-19= NM_001168237.2:c.2060-19A>T NM_001168237.2:c.2060-19A>G
ABL2 transcript variant h NM_001168238.1:c.1997-19= NM_001168238.1:c.1997-19A>T NM_001168238.1:c.1997-19A>G
ABL2 transcript variant h NM_001168238.2:c.1997-19= NM_001168238.2:c.1997-19A>T NM_001168238.2:c.1997-19A>G
ABL2 transcript variant i NM_001168239.1:c.1952-19= NM_001168239.1:c.1952-19A>T NM_001168239.1:c.1952-19A>G
ABL2 transcript variant i NM_001168239.2:c.1952-19= NM_001168239.2:c.1952-19A>T NM_001168239.2:c.1952-19A>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, 18 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CANCER-GENOME ss74803020 Dec 06, 2007 (129)
2 NHLBI-ESP ss342013528 May 09, 2011 (134)
3 1000GENOMES ss488692495 May 04, 2012 (137)
4 EXOME_CHIP ss491306595 May 04, 2012 (137)
5 CLINSEQ_SNP ss491610357 May 04, 2012 (137)
6 ILLUMINA ss780722141 Sep 08, 2015 (146)
7 ILLUMINA ss783397909 Sep 08, 2015 (146)
8 EVA-GONL ss975859915 Aug 21, 2014 (142)
9 1000GENOMES ss1293604455 Aug 21, 2014 (142)
10 EVA_FINRISK ss1584013215 Apr 01, 2015 (144)
11 EVA_DECODE ss1585249385 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1601577411 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1644571444 Apr 01, 2015 (144)
14 EVA_EXAC ss1685931895 Apr 01, 2015 (144)
15 EVA_MGP ss1710934130 Apr 01, 2015 (144)
16 ILLUMINA ss1751883992 Sep 08, 2015 (146)
17 ILLUMINA ss1917738932 Feb 12, 2016 (147)
18 WEILL_CORNELL_DGM ss1919096936 Feb 12, 2016 (147)
19 ILLUMINA ss1946016093 Feb 12, 2016 (147)
20 ILLUMINA ss1958335661 Feb 12, 2016 (147)
21 USC_VALOUEV ss2148091513 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2167927774 Dec 20, 2016 (150)
23 ILLUMINA ss2710686653 Nov 08, 2017 (151)
24 GNOMAD ss2732086365 Nov 08, 2017 (151)
25 GNOMAD ss2746506822 Nov 08, 2017 (151)
26 GNOMAD ss2763240357 Nov 08, 2017 (151)
27 AFFY ss2984886497 Nov 08, 2017 (151)
28 SWEGEN ss2988024469 Nov 08, 2017 (151)
29 ILLUMINA ss3021155589 Nov 08, 2017 (151)
30 ILLUMINA ss3626250586 Oct 11, 2018 (152)
31 ILLUMINA ss3634360479 Oct 11, 2018 (152)
32 ILLUMINA ss3640067833 Oct 11, 2018 (152)
33 ILLUMINA ss3644512059 Oct 11, 2018 (152)
34 ILLUMINA ss3651494317 Oct 11, 2018 (152)
35 ILLUMINA ss3651494318 Oct 11, 2018 (152)
36 ILLUMINA ss3653655946 Oct 11, 2018 (152)
37 EGCUT_WGS ss3655972319 Jul 12, 2019 (153)
38 EVA_DECODE ss3688111602 Jul 12, 2019 (153)
39 ILLUMINA ss3725083432 Jul 12, 2019 (153)
40 ILLUMINA ss3744356420 Jul 12, 2019 (153)
41 ILLUMINA ss3744661346 Jul 12, 2019 (153)
42 PAGE_CC ss3770855010 Jul 12, 2019 (153)
43 ILLUMINA ss3772162373 Jul 12, 2019 (153)
44 EVA ss3823689687 Apr 25, 2020 (154)
45 EVA ss3825581681 Apr 25, 2020 (154)
46 EVA ss3986148947 Apr 25, 2021 (155)
47 TOPMED ss4474299594 Apr 25, 2021 (155)
48 TOPMED ss4474299595 Apr 25, 2021 (155)
49 1000G_HIGH_COVERAGE ss5244880061 Oct 12, 2022 (156)
50 EVA ss5323126637 Oct 12, 2022 (156)
51 HUGCELL_USP ss5445407147 Oct 12, 2022 (156)
52 1000G_HIGH_COVERAGE ss5518506084 Oct 12, 2022 (156)
53 EVA ss5832898116 Oct 12, 2022 (156)
54 EVA ss5847564419 Oct 12, 2022 (156)
55 EVA ss5848279176 Oct 12, 2022 (156)
56 EVA ss5910921270 Oct 12, 2022 (156)
57 EVA ss5938737633 Oct 12, 2022 (156)
58 EVA ss5979296268 Oct 12, 2022 (156)
59 1000Genomes NC_000001.10 - 179078052 Oct 11, 2018 (152)
60 1000Genomes_30x NC_000001.11 - 179108917 Oct 12, 2022 (156)
61 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 179078052 Oct 11, 2018 (152)
62 Genetic variation in the Estonian population NC_000001.10 - 179078052 Oct 11, 2018 (152)
63 ExAC NC_000001.10 - 179078052 Oct 11, 2018 (152)
64 FINRISK NC_000001.10 - 179078052 Apr 25, 2020 (154)
65 gnomAD - Genomes NC_000001.11 - 179108917 Apr 25, 2021 (155)
66 gnomAD - Exomes NC_000001.10 - 179078052 Jul 12, 2019 (153)
67 GO Exome Sequencing Project NC_000001.10 - 179078052 Oct 11, 2018 (152)
68 Genome of the Netherlands Release 5 NC_000001.10 - 179078052 Apr 25, 2020 (154)
69 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 179078052 Apr 25, 2020 (154)
70 The PAGE Study NC_000001.11 - 179108917 Jul 12, 2019 (153)
71 Qatari NC_000001.10 - 179078052 Apr 25, 2020 (154)
72 Siberian NC_000001.10 - 179078052 Apr 25, 2020 (154)
73 TopMed

Submission ignored due to conflicting rows:
Row 37905929 (NC_000001.11:179108916:T:A 655/264690)
Row 37905930 (NC_000001.11:179108916:T:C 1/264690)

- Apr 25, 2021 (155)
74 TopMed

Submission ignored due to conflicting rows:
Row 37905929 (NC_000001.11:179108916:T:A 655/264690)
Row 37905930 (NC_000001.11:179108916:T:C 1/264690)

- Apr 25, 2021 (155)
75 UK 10K study - Twins NC_000001.10 - 179078052 Oct 11, 2018 (152)
76 ALFA NC_000001.11 - 179108917 Apr 25, 2021 (155)
77 ClinVar RCV000888374.3 Oct 12, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491610357, ss1585249385 NC_000001.9:177344674:T:A NC_000001.11:179108916:T:A (self)
4420015, 2419683, 1710567, 5159388, 9676, 1116122, 148230, 1050815, 50882, 1138866, 607867, 2419683, ss342013528, ss488692495, ss491306595, ss780722141, ss783397909, ss975859915, ss1293604455, ss1584013215, ss1601577411, ss1644571444, ss1685931895, ss1710934130, ss1751883992, ss1917738932, ss1919096936, ss1946016093, ss1958335661, ss2148091513, ss2710686653, ss2732086365, ss2746506822, ss2763240357, ss2984886497, ss2988024469, ss3021155589, ss3626250586, ss3634360479, ss3640067833, ss3644512059, ss3651494317, ss3651494318, ss3653655946, ss3655972319, ss3744356420, ss3744661346, ss3772162373, ss3823689687, ss3825581681, ss3986148947, ss5323126637, ss5832898116, ss5847564419, ss5848279176, ss5938737633, ss5979296268 NC_000001.10:179078051:T:A NC_000001.11:179108916:T:A (self)
RCV000888374.3, 6032019, 31950522, 76479, 5054609672, ss2167927774, ss3688111602, ss3725083432, ss3770855010, ss4474299594, ss5244880061, ss5445407147, ss5518506084, ss5910921270 NC_000001.11:179108916:T:A NC_000001.11:179108916:T:A (self)
ss74803020 NT_004487.19:30566693:T:A NC_000001.11:179108916:T:A (self)
5054609672, ss4474299595 NC_000001.11:179108916:T:C NC_000001.11:179108916:T:C (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 rs55892721

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