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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.

rs2274664

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:54238956 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.338970 (89722/264690, TOPMED)
C=0.349648 (48857/139732, GnomAD)
C=0.38596 (16543/42862, ALFA) (+ 17 more)
C=0.21668 (6123/28258, 14KJPN)
C=0.21372 (3582/16760, 8.3KJPN)
C=0.2892 (1852/6404, 1000G_30x)
C=0.2899 (1452/5008, 1000G)
C=0.4455 (1996/4480, Estonian)
C=0.4214 (1624/3854, ALSPAC)
C=0.4328 (1605/3708, TWINSUK)
C=0.2773 (812/2928, KOREAN)
C=0.2895 (546/1886, HapMap)
C=0.372 (371/998, GoNL)
C=0.387 (232/600, NorthernSweden)
T=0.496 (265/534, MGP)
C=0.199 (99/498, SGDP_PRJ)
C=0.366 (79/216, Qatari)
C=0.341 (73/214, Vietnamese)
C=0.26 (11/42, Siberian)
T=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SSBP3-AS1 : Non Coding Transcript Variant
SSBP3 : Intron 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 58678 C=0.37781 T=0.62219 0.153993 0.398378 0.447629 N/A
European Sub 42184 C=0.42739 T=0.57261 0.186374 0.331595 0.482031 3
African Sub 11712 C=0.20150 T=0.79850 0.040984 0.637978 0.321038 0
African Others Sub 420 C=0.179 T=0.821 0.019048 0.661905 0.319048 1
African American Sub 11292 C=0.20236 T=0.79764 0.0418 0.637088 0.321112 0
Asian Sub 136 C=0.257 T=0.743 0.029412 0.514706 0.455882 2
East Asian Sub 108 C=0.259 T=0.741 0.037037 0.518519 0.444444 1
Other Asian Sub 28 C=0.25 T=0.75 0.0 0.5 0.5 1
Latin American 1 Sub 182 C=0.363 T=0.637 0.131868 0.406593 0.461538 0
Latin American 2 Sub 754 C=0.325 T=0.675 0.092838 0.442971 0.464191 1
South Asian Sub 114 C=0.202 T=0.798 0.035088 0.631579 0.333333 0
Other Sub 3596 C=0.3924 T=0.6076 0.164627 0.379867 0.455506 2


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=0.338970 T=0.661030
gnomAD - Genomes Global Study-wide 139732 C=0.349648 T=0.650352
gnomAD - Genomes European Sub 75698 C=0.42810 T=0.57190
gnomAD - Genomes African Sub 41816 C=0.20129 T=0.79871
gnomAD - Genomes American Sub 13630 C=0.35532 T=0.64468
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.4319 T=0.5681
gnomAD - Genomes East Asian Sub 3122 C=0.3065 T=0.6935
gnomAD - Genomes Other Sub 2148 C=0.3729 T=0.6271
Allele Frequency Aggregator Total Global 42862 C=0.38596 T=0.61404
Allele Frequency Aggregator European Sub 32516 C=0.42844 T=0.57156
Allele Frequency Aggregator African Sub 6944 C=0.2002 T=0.7998
Allele Frequency Aggregator Other Sub 2216 C=0.3849 T=0.6151
Allele Frequency Aggregator Latin American 2 Sub 754 C=0.325 T=0.675
Allele Frequency Aggregator Latin American 1 Sub 182 C=0.363 T=0.637
Allele Frequency Aggregator Asian Sub 136 C=0.257 T=0.743
Allele Frequency Aggregator South Asian Sub 114 C=0.202 T=0.798
14KJPN JAPANESE Study-wide 28258 C=0.21668 T=0.78332
8.3KJPN JAPANESE Study-wide 16760 C=0.21372 T=0.78628
1000Genomes_30x Global Study-wide 6404 C=0.2892 T=0.7108
1000Genomes_30x African Sub 1786 C=0.1702 T=0.8298
1000Genomes_30x Europe Sub 1266 C=0.4637 T=0.5363
1000Genomes_30x South Asian Sub 1202 C=0.1864 T=0.8136
1000Genomes_30x East Asian Sub 1170 C=0.3444 T=0.6556
1000Genomes_30x American Sub 980 C=0.341 T=0.659
1000Genomes Global Study-wide 5008 C=0.2899 T=0.7101
1000Genomes African Sub 1322 C=0.1747 T=0.8253
1000Genomes East Asian Sub 1008 C=0.3442 T=0.6558
1000Genomes Europe Sub 1006 C=0.4652 T=0.5348
1000Genomes South Asian Sub 978 C=0.184 T=0.816
1000Genomes American Sub 694 C=0.326 T=0.674
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4455 T=0.5545
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4214 T=0.5786
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4328 T=0.5672
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.2773 T=0.7227
HapMap Global Study-wide 1886 C=0.2895 T=0.7105
HapMap American Sub 766 C=0.303 T=0.697
HapMap African Sub 692 C=0.217 T=0.783
HapMap Asian Sub 254 C=0.280 T=0.720
HapMap Europe Sub 174 C=0.534 T=0.466
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.372 T=0.628
Northern Sweden ACPOP Study-wide 600 C=0.387 T=0.613
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.504 T=0.496
SGDP_PRJ Global Study-wide 498 C=0.199 T=0.801
Qatari Global Study-wide 216 C=0.366 T=0.634
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.341 T=0.659
Siberian Global Study-wide 42 C=0.26 T=0.74
The Danish reference pan genome Danish Study-wide 40 C=0.57 T=0.42
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.54238956C>T
GRCh37.p13 chr 1 NC_000001.10:g.54704629C>T
Gene: SSBP3, single stranded DNA binding protein 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SSBP3 transcript variant 3 NM_001009955.4:c.846+173G…

NM_001009955.4:c.846+173G>A

N/A Intron Variant
SSBP3 transcript variant 4 NM_001394360.1:c.870+173G…

NM_001394360.1:c.870+173G>A

N/A Intron Variant
SSBP3 transcript variant 5 NM_001394361.1:c.807+173G…

NM_001394361.1:c.807+173G>A

N/A Intron Variant
SSBP3 transcript variant 6 NM_001394362.1:c.786+173G…

NM_001394362.1:c.786+173G>A

N/A Intron Variant
SSBP3 transcript variant 7 NM_001394363.1:c.696+173G…

NM_001394363.1:c.696+173G>A

N/A Intron Variant
SSBP3 transcript variant 8 NM_001394364.1:c.597+173G…

NM_001394364.1:c.597+173G>A

N/A Intron Variant
SSBP3 transcript variant 9 NM_001394365.1:c.516+173G…

NM_001394365.1:c.516+173G>A

N/A Intron Variant
SSBP3 transcript variant 10 NM_001394366.1:c.516+173G…

NM_001394366.1:c.516+173G>A

N/A Intron Variant
SSBP3 transcript variant 11 NM_001394367.1:c.480+173G…

NM_001394367.1:c.480+173G>A

N/A Intron Variant
SSBP3 transcript variant 2 NM_018070.5:c.867+173G>A N/A Intron Variant
SSBP3 transcript variant 1 NM_145716.4:c.927+173G>A N/A Intron Variant
SSBP3 transcript variant X4 XM_017000897.3:c.597+173G…

XM_017000897.3:c.597+173G>A

N/A Intron Variant
SSBP3 transcript variant X6 XM_017000898.3:c.597+173G…

XM_017000898.3:c.597+173G>A

N/A Intron Variant
SSBP3 transcript variant X1 XM_047416692.1:c.597+173G…

XM_047416692.1:c.597+173G>A

N/A Intron Variant
SSBP3 transcript variant X2 XM_047416693.1:c.516+173G…

XM_047416693.1:c.516+173G>A

N/A Intron Variant
SSBP3 transcript variant X3 XM_047416695.1:c.456+173G…

XM_047416695.1:c.456+173G>A

N/A Intron Variant
SSBP3 transcript variant X5 XM_047416697.1:c.516+173G…

XM_047416697.1:c.516+173G>A

N/A Intron Variant
Gene: SSBP3-AS1, SSBP3 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SSBP3-AS1 transcript NR_103541.1:n.2514C>T N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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= T
GRCh38.p14 chr 1 NC_000001.11:g.54238956= NC_000001.11:g.54238956C>T
GRCh37.p13 chr 1 NC_000001.10:g.54704629= NC_000001.10:g.54704629C>T
SSBP3-AS1 transcript NR_103541.1:n.2514= NR_103541.1:n.2514C>T
C1orf191 transcript NM_001034847.1:c.*587= NM_001034847.1:c.*587C>T
SSBP3 transcript variant 3 NM_001009955.3:c.846+173= NM_001009955.3:c.846+173G>A
SSBP3 transcript variant 3 NM_001009955.4:c.846+173= NM_001009955.4:c.846+173G>A
SSBP3 transcript variant 4 NM_001394360.1:c.870+173= NM_001394360.1:c.870+173G>A
SSBP3 transcript variant 5 NM_001394361.1:c.807+173= NM_001394361.1:c.807+173G>A
SSBP3 transcript variant 6 NM_001394362.1:c.786+173= NM_001394362.1:c.786+173G>A
SSBP3 transcript variant 7 NM_001394363.1:c.696+173= NM_001394363.1:c.696+173G>A
SSBP3 transcript variant 8 NM_001394364.1:c.597+173= NM_001394364.1:c.597+173G>A
SSBP3 transcript variant 9 NM_001394365.1:c.516+173= NM_001394365.1:c.516+173G>A
SSBP3 transcript variant 10 NM_001394366.1:c.516+173= NM_001394366.1:c.516+173G>A
SSBP3 transcript variant 11 NM_001394367.1:c.480+173= NM_001394367.1:c.480+173G>A
SSBP3 transcript variant 2 NM_018070.4:c.867+173= NM_018070.4:c.867+173G>A
SSBP3 transcript variant 2 NM_018070.5:c.867+173= NM_018070.5:c.867+173G>A
SSBP3 transcript variant 1 NM_145716.3:c.927+173= NM_145716.3:c.927+173G>A
SSBP3 transcript variant 1 NM_145716.4:c.927+173= NM_145716.4:c.927+173G>A
SSBP3 transcript variant X1 XM_005270712.1:c.951+173= XM_005270712.1:c.951+173G>A
SSBP3 transcript variant X2 XM_005270713.1:c.870+173= XM_005270713.1:c.870+173G>A
SSBP3 transcript variant X3 XM_005270714.1:c.780+173= XM_005270714.1:c.780+173G>A
SSBP3 transcript variant X4 XM_005270715.1:c.756+173= XM_005270715.1:c.756+173G>A
SSBP3 transcript variant X4 XM_017000897.3:c.597+173= XM_017000897.3:c.597+173G>A
SSBP3 transcript variant X6 XM_017000898.3:c.597+173= XM_017000898.3:c.597+173G>A
SSBP3 transcript variant X1 XM_047416692.1:c.597+173= XM_047416692.1:c.597+173G>A
SSBP3 transcript variant X2 XM_047416693.1:c.516+173= XM_047416693.1:c.516+173G>A
SSBP3 transcript variant X3 XM_047416695.1:c.456+173= XM_047416695.1:c.456+173G>A
SSBP3 transcript variant X5 XM_047416697.1:c.516+173= XM_047416697.1:c.516+173G>A
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#.

100 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3210515 Sep 28, 2001 (100)
2 CSHL-HAPMAP ss19843081 Feb 27, 2004 (120)
3 SSAHASNP ss20471324 Apr 05, 2004 (121)
4 ILLUMINA ss65780336 Oct 14, 2006 (127)
5 ILLUMINA ss74864073 Dec 07, 2007 (129)
6 SI_EXO ss76885243 Dec 07, 2007 (129)
7 HGSV ss83908250 Dec 15, 2007 (130)
8 HGSV ss85468623 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss87432135 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss97937024 Feb 05, 2009 (130)
11 BGI ss106566406 Feb 05, 2009 (130)
12 1000GENOMES ss110447663 Jan 24, 2009 (130)
13 ILLUMINA-UK ss118693321 Feb 14, 2009 (130)
14 KRIBB_YJKIM ss119426023 Dec 01, 2009 (131)
15 ENSEMBL ss137936634 Dec 01, 2009 (131)
16 ENSEMBL ss138942979 Dec 01, 2009 (131)
17 GMI ss154995973 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss163387632 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss164281495 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss166515587 Jul 04, 2010 (132)
21 ILLUMINA ss173236162 Jul 04, 2010 (132)
22 BUSHMAN ss198449506 Jul 04, 2010 (132)
23 1000GENOMES ss218381631 Jul 14, 2010 (132)
24 1000GENOMES ss230531959 Jul 14, 2010 (132)
25 1000GENOMES ss238226684 Jul 15, 2010 (132)
26 BL ss253094095 May 09, 2011 (134)
27 GMI ss275823925 May 04, 2012 (137)
28 PJP ss290510088 May 09, 2011 (134)
29 ILLUMINA ss482358582 May 04, 2012 (137)
30 ILLUMINA ss484097873 May 04, 2012 (137)
31 ILLUMINA ss536288110 Sep 08, 2015 (146)
32 TISHKOFF ss554105816 Apr 25, 2013 (138)
33 SSMP ss647932682 Apr 25, 2013 (138)
34 ILLUMINA ss780525597 Sep 08, 2015 (146)
35 ILLUMINA ss782494056 Sep 08, 2015 (146)
36 ILLUMINA ss836017094 Sep 08, 2015 (146)
37 EVA-GONL ss975154134 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1067881508 Aug 21, 2014 (142)
39 1000GENOMES ss1290870678 Aug 21, 2014 (142)
40 DDI ss1425806211 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1574054315 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1600161604 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1643155637 Apr 01, 2015 (144)
44 EVA_MGP ss1710905793 Apr 01, 2015 (144)
45 EVA_SVP ss1712332359 Apr 01, 2015 (144)
46 HAMMER_LAB ss1794351771 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1918362944 Feb 12, 2016 (147)
48 GENOMED ss1966743631 Jul 19, 2016 (147)
49 JJLAB ss2019696599 Sep 14, 2016 (149)
50 USC_VALOUEV ss2147710615 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2162460644 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2624360989 Nov 08, 2017 (151)
53 ILLUMINA ss2632514368 Nov 08, 2017 (151)
54 GRF ss2697622417 Nov 08, 2017 (151)
55 GNOMAD ss2755092290 Nov 08, 2017 (151)
56 AFFY ss2984859579 Nov 08, 2017 (151)
57 AFFY ss2985508416 Nov 08, 2017 (151)
58 SWEGEN ss2986807991 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3023608323 Nov 08, 2017 (151)
60 CSHL ss3343450664 Nov 08, 2017 (151)
61 ILLUMINA ss3626096209 Oct 11, 2018 (152)
62 ILLUMINA ss3630550653 Oct 11, 2018 (152)
63 ILLUMINA ss3637756389 Oct 11, 2018 (152)
64 ILLUMINA ss3641588748 Oct 11, 2018 (152)
65 ILLUMINA ss3642768619 Oct 11, 2018 (152)
66 OMUKHERJEE_ADBS ss3646230866 Oct 11, 2018 (152)
67 URBANLAB ss3646661456 Oct 11, 2018 (152)
68 ILLUMINA ss3653632094 Oct 11, 2018 (152)
69 EGCUT_WGS ss3654871821 Jul 12, 2019 (153)
70 EVA_DECODE ss3686760116 Jul 12, 2019 (153)
71 ACPOP ss3727041507 Jul 12, 2019 (153)
72 EVA ss3746196241 Jul 12, 2019 (153)
73 PACBIO ss3783407089 Jul 12, 2019 (153)
74 PACBIO ss3789065344 Jul 12, 2019 (153)
75 PACBIO ss3793938013 Jul 12, 2019 (153)
76 KHV_HUMAN_GENOMES ss3799205576 Jul 12, 2019 (153)
77 EVA ss3825565281 Apr 25, 2020 (154)
78 EVA ss3826168137 Apr 25, 2020 (154)
79 SGDP_PRJ ss3848834453 Apr 25, 2020 (154)
80 KRGDB ss3893843199 Apr 25, 2020 (154)
81 FSA-LAB ss3983931991 Apr 25, 2021 (155)
82 FSA-LAB ss3983931992 Apr 25, 2021 (155)
83 EVA ss3986010768 Apr 25, 2021 (155)
84 EVA ss4016909973 Apr 25, 2021 (155)
85 TOPMED ss4449563403 Apr 25, 2021 (155)
86 TOMMO_GENOMICS ss5143925481 Apr 25, 2021 (155)
87 1000G_HIGH_COVERAGE ss5242249983 Oct 12, 2022 (156)
88 EVA ss5314614689 Oct 12, 2022 (156)
89 EVA ss5318689469 Oct 12, 2022 (156)
90 HUGCELL_USP ss5443313637 Oct 12, 2022 (156)
91 1000G_HIGH_COVERAGE ss5514517511 Oct 12, 2022 (156)
92 SANFORD_IMAGENETICS ss5625517556 Oct 12, 2022 (156)
93 TOMMO_GENOMICS ss5668691294 Oct 12, 2022 (156)
94 YY_MCH ss5800590256 Oct 12, 2022 (156)
95 EVA ss5831951126 Oct 12, 2022 (156)
96 EVA ss5848902334 Oct 12, 2022 (156)
97 EVA ss5908237248 Oct 12, 2022 (156)
98 EVA ss5937348861 Oct 12, 2022 (156)
99 EVA ss5979958121 Oct 12, 2022 (156)
100 EVA ss5981193672 Oct 12, 2022 (156)
101 1000Genomes NC_000001.10 - 54704629 Oct 11, 2018 (152)
102 1000Genomes_30x NC_000001.11 - 54238956 Oct 12, 2022 (156)
103 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 54704629 Oct 11, 2018 (152)
104 Genetic variation in the Estonian population NC_000001.10 - 54704629 Oct 11, 2018 (152)
105 The Danish reference pan genome NC_000001.10 - 54704629 Apr 25, 2020 (154)
106 gnomAD - Genomes NC_000001.11 - 54238956 Apr 25, 2021 (155)
107 Genome of the Netherlands Release 5 NC_000001.10 - 54704629 Apr 25, 2020 (154)
108 HapMap NC_000001.11 - 54238956 Apr 25, 2020 (154)
109 KOREAN population from KRGDB NC_000001.10 - 54704629 Apr 25, 2020 (154)
110 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 54704629 Apr 25, 2020 (154)
111 Northern Sweden NC_000001.10 - 54704629 Jul 12, 2019 (153)
112 Qatari NC_000001.10 - 54704629 Apr 25, 2020 (154)
113 SGDP_PRJ NC_000001.10 - 54704629 Apr 25, 2020 (154)
114 Siberian NC_000001.10 - 54704629 Apr 25, 2020 (154)
115 8.3KJPN NC_000001.10 - 54704629 Apr 25, 2021 (155)
116 14KJPN NC_000001.11 - 54238956 Oct 12, 2022 (156)
117 TopMed NC_000001.11 - 54238956 Apr 25, 2021 (155)
118 UK 10K study - Twins NC_000001.10 - 54704629 Oct 11, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000001.10 - 54704629 Jul 12, 2019 (153)
120 ALFA NC_000001.11 - 54238956 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs59132347 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83908250, ss85468623 NC_000001.8:54416649:C:T NC_000001.11:54238955:C:T (self)
ss87432135, ss110447663, ss118693321, ss163387632, ss164281495, ss166515587, ss198449506, ss253094095, ss275823925, ss290510088, ss482358582, ss1712332359, ss3642768619 NC_000001.9:54477216:C:T NC_000001.11:54238955:C:T (self)
1588244, 863351, 610069, 1498941, 365827, 1020593, 22545, 326372, 404874, 851433, 226969, 1894788, 863351, 176745, ss218381631, ss230531959, ss238226684, ss484097873, ss536288110, ss554105816, ss647932682, ss780525597, ss782494056, ss836017094, ss975154134, ss1067881508, ss1290870678, ss1425806211, ss1574054315, ss1600161604, ss1643155637, ss1710905793, ss1794351771, ss1918362944, ss1966743631, ss2019696599, ss2147710615, ss2624360989, ss2632514368, ss2697622417, ss2755092290, ss2984859579, ss2985508416, ss2986807991, ss3343450664, ss3626096209, ss3630550653, ss3637756389, ss3641588748, ss3646230866, ss3653632094, ss3654871821, ss3727041507, ss3746196241, ss3783407089, ss3789065344, ss3793938013, ss3825565281, ss3826168137, ss3848834453, ss3893843199, ss3983931991, ss3983931992, ss3986010768, ss4016909973, ss5143925481, ss5314614689, ss5318689469, ss5625517556, ss5831951126, ss5937348861, ss5979958121, ss5981193672 NC_000001.10:54704628:C:T NC_000001.11:54238955:C:T (self)
2043446, 11248668, 67029, 2528398, 13169738, 1942191591, ss2162460644, ss3023608323, ss3646661456, ss3686760116, ss3799205576, ss4449563403, ss5242249983, ss5443313637, ss5514517511, ss5668691294, ss5800590256, ss5848902334, ss5908237248 NC_000001.11:54238955:C:T NC_000001.11:54238955:C:T (self)
ss19843081, ss20471324 NT_032977.6:16267699:C:T NC_000001.11:54238955:C:T (self)
ss76885243 NT_032977.8:24676547:C:T NC_000001.11:54238955:C:T (self)
ss3210515, ss65780336, ss74864073, ss97937024, ss106566406, ss119426023, ss137936634, ss138942979, ss154995973, ss173236162 NT_032977.9:24676546:C:T NC_000001.11:54238955:C:T (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 rs2274664

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.post820+afb47a3d