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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.

rs7556888

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:159683750 (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
C=0.377188 (99838/264690, TOPMED)
C=0.464384 (66315/142802, ALFA)
C=0.379696 (53165/140020, GnomAD) (+ 18 more)
C=0.38590 (10904/28256, 14KJPN)
C=0.38663 (6480/16760, 8.3KJPN)
C=0.2978 (1907/6404, 1000G_30x)
C=0.2975 (1490/5008, 1000G)
C=0.4562 (2044/4480, Estonian)
C=0.4673 (1801/3854, ALSPAC)
C=0.4720 (1750/3708, TWINSUK)
C=0.3055 (895/2930, KOREAN)
C=0.2727 (516/1892, HapMap)
C=0.3068 (562/1832, Korea1K)
C=0.4418 (501/1134, Daghestan)
C=0.483 (482/998, GoNL)
C=0.448 (269/600, NorthernSweden)
T=0.354 (116/328, SGDP_PRJ)
C=0.449 (97/216, Qatari)
C=0.179 (38/212, Vietnamese)
C=0.38 (15/40, GENOME_DK)
T=0.33 (10/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BAZ2B : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 142802 T=0.535616 A=0.000000, C=0.464384
European Sub 123624 T=0.520894 A=0.000000, C=0.479106
African Sub 6102 T=0.8982 A=0.0000, C=0.1018
African Others Sub 236 T=0.962 A=0.000, C=0.038
African American Sub 5866 T=0.8957 A=0.0000, C=0.1043
Asian Sub 566 T=0.721 A=0.000, C=0.279
East Asian Sub 452 T=0.741 A=0.000, C=0.259
Other Asian Sub 114 T=0.640 A=0.000, C=0.360
Latin American 1 Sub 652 T=0.604 A=0.000, C=0.396
Latin American 2 Sub 5826 T=0.4147 A=0.0000, C=0.5853
South Asian Sub 136 T=0.765 A=0.000, C=0.235
Other Sub 5896 T=0.5578 A=0.0000, C=0.4422


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 T=0.622812 C=0.377188
Allele Frequency Aggregator Total Global 142802 T=0.535616 A=0.000000, C=0.464384
Allele Frequency Aggregator European Sub 123624 T=0.520894 A=0.000000, C=0.479106
Allele Frequency Aggregator African Sub 6102 T=0.8982 A=0.0000, C=0.1018
Allele Frequency Aggregator Other Sub 5896 T=0.5578 A=0.0000, C=0.4422
Allele Frequency Aggregator Latin American 2 Sub 5826 T=0.4147 A=0.0000, C=0.5853
Allele Frequency Aggregator Latin American 1 Sub 652 T=0.604 A=0.000, C=0.396
Allele Frequency Aggregator Asian Sub 566 T=0.721 A=0.000, C=0.279
Allele Frequency Aggregator South Asian Sub 136 T=0.765 A=0.000, C=0.235
gnomAD - Genomes Global Study-wide 140020 T=0.620304 C=0.379696
gnomAD - Genomes European Sub 75814 T=0.51555 C=0.48445
gnomAD - Genomes African Sub 41976 T=0.86516 C=0.13484
gnomAD - Genomes American Sub 13632 T=0.44704 C=0.55296
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.5373 C=0.4627
gnomAD - Genomes East Asian Sub 3122 T=0.7495 C=0.2505
gnomAD - Genomes Other Sub 2152 T=0.5730 C=0.4270
14KJPN JAPANESE Study-wide 28256 T=0.61410 C=0.38590
8.3KJPN JAPANESE Study-wide 16760 T=0.61337 C=0.38663
1000Genomes_30x Global Study-wide 6404 T=0.7022 C=0.2978
1000Genomes_30x African Sub 1786 T=0.9334 C=0.0666
1000Genomes_30x Europe Sub 1266 T=0.5118 C=0.4882
1000Genomes_30x South Asian Sub 1202 T=0.7454 C=0.2546
1000Genomes_30x East Asian Sub 1170 T=0.7470 C=0.2530
1000Genomes_30x American Sub 980 T=0.420 C=0.580
1000Genomes Global Study-wide 5008 T=0.7025 C=0.2975
1000Genomes African Sub 1322 T=0.9327 C=0.0673
1000Genomes East Asian Sub 1008 T=0.7421 C=0.2579
1000Genomes Europe Sub 1006 T=0.5109 C=0.4891
1000Genomes South Asian Sub 978 T=0.753 C=0.247
1000Genomes American Sub 694 T=0.414 C=0.586
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5437 C=0.4562
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5327 C=0.4673
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5280 C=0.4720
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6945 A=0.0000, C=0.3055
HapMap Global Study-wide 1892 T=0.7273 C=0.2727
HapMap American Sub 770 T=0.651 C=0.349
HapMap African Sub 692 T=0.902 C=0.098
HapMap Asian Sub 254 T=0.646 C=0.354
HapMap Europe Sub 176 T=0.494 C=0.506
Korean Genome Project KOREAN Study-wide 1832 T=0.6932 C=0.3068
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.5582 C=0.4418
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.573 C=0.427
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.493 C=0.507
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.533 C=0.467
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.481 C=0.519
Genome-wide autozygosity in Daghestan South Asian Sub 96 T=0.75 C=0.25
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.36 C=0.64
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.517 C=0.483
Northern Sweden ACPOP Study-wide 600 T=0.552 C=0.448
SGDP_PRJ Global Study-wide 328 T=0.354 C=0.646
Qatari Global Study-wide 216 T=0.551 C=0.449
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.821 C=0.179
The Danish reference pan genome Danish Study-wide 40 T=0.62 C=0.38
Siberian Global Study-wide 30 T=0.33 C=0.67
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 2 NC_000002.12:g.159683750T>A
GRCh38.p14 chr 2 NC_000002.12:g.159683750T>C
GRCh37.p13 chr 2 NC_000002.11:g.160540261T>A
GRCh37.p13 chr 2 NC_000002.11:g.160540261T>C
BAZ2B RefSeqGene NG_051314.1:g.33690A>T
BAZ2B RefSeqGene NG_051314.1:g.33690A>G
Gene: BAZ2B, bromodomain adjacent to zinc finger domain 2B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BAZ2B transcript variant 2 NM_001289975.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant 4 NM_001329857.2:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant 5 NM_001329858.2:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant 1 NM_013450.4:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant 3 NR_110586.2:n. N/A Genic Downstream Transcript Variant
BAZ2B transcript variant X14 XM_017003920.2:c.-755-129…

XM_017003920.2:c.-755-12940A>T

N/A Intron Variant
BAZ2B transcript variant X3 XM_047444038.1:c.-647-129…

XM_047444038.1:c.-647-12940A>T

N/A Intron Variant
BAZ2B transcript variant X4 XM_047444039.1:c.-650-129…

XM_047444039.1:c.-650-12940A>T

N/A Intron Variant
BAZ2B transcript variant X6 XM_047444040.1:c.-548+269…

XM_047444040.1:c.-548+26967A>T

N/A Intron Variant
BAZ2B transcript variant X7 XM_047444041.1:c.-650-129…

XM_047444041.1:c.-650-12937A>T

N/A Intron Variant
BAZ2B transcript variant X8 XM_047444042.1:c.-653-129…

XM_047444042.1:c.-653-12937A>T

N/A Intron Variant
BAZ2B transcript variant X9 XM_047444043.1:c.-581-129…

XM_047444043.1:c.-581-12940A>T

N/A Intron Variant
BAZ2B transcript variant X10 XM_047444044.1:c.-508-129…

XM_047444044.1:c.-508-12940A>T

N/A Intron Variant
BAZ2B transcript variant X11 XM_047444045.1:c.-511-129…

XM_047444045.1:c.-511-12937A>T

N/A Intron Variant
BAZ2B transcript variant X12 XM_047444046.1:c.-545+269…

XM_047444046.1:c.-545+26967A>T

N/A Intron Variant
BAZ2B transcript variant X13 XM_047444047.1:c.-479+269…

XM_047444047.1:c.-479+26967A>T

N/A Intron Variant
BAZ2B transcript variant X15 XM_047444048.1:c.-1452-12…

XM_047444048.1:c.-1452-12940A>T

N/A Intron Variant
BAZ2B transcript variant X24 XM_047444052.1:c.-647-129…

XM_047444052.1:c.-647-12940A>T

N/A Intron Variant
BAZ2B transcript variant X29 XM_047444055.1:c.-647-129…

XM_047444055.1:c.-647-12940A>T

N/A Intron Variant
BAZ2B transcript variant X5 XM_005246488.3:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X41 XM_005246489.5:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X16 XM_005246492.5:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X1 XM_011511038.3:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X18 XM_011511042.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X22 XM_011511043.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X25 XM_011511044.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X27 XM_011511045.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X33 XM_011511050.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X34 XM_011511051.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X37 XM_011511052.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X45 XM_011511056.2:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X17 XM_017003923.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X20 XM_017003924.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X32 XM_017003930.2:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X2 XM_047444037.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X19 XM_047444049.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X21 XM_047444050.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X23 XM_047444051.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X26 XM_047444053.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X28 XM_047444054.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X30 XM_047444056.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X31 XM_047444057.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X35 XM_047444058.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X36 XM_047444059.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X38 XM_047444060.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X39 XM_047444061.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X40 XM_047444062.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X42 XM_047444063.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X43 XM_047444064.1:c. N/A Genic Upstream Transcript Variant
BAZ2B transcript variant X44 XM_047444065.1:c. 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 T= A C
GRCh38.p14 chr 2 NC_000002.12:g.159683750= NC_000002.12:g.159683750T>A NC_000002.12:g.159683750T>C
GRCh37.p13 chr 2 NC_000002.11:g.160540261= NC_000002.11:g.160540261T>A NC_000002.11:g.160540261T>C
BAZ2B RefSeqGene NG_051314.1:g.33690= NG_051314.1:g.33690A>T NG_051314.1:g.33690A>G
BAZ2B transcript variant X14 XM_017003920.2:c.-755-12940= XM_017003920.2:c.-755-12940A>T XM_017003920.2:c.-755-12940A>G
BAZ2B transcript variant X3 XM_047444038.1:c.-647-12940= XM_047444038.1:c.-647-12940A>T XM_047444038.1:c.-647-12940A>G
BAZ2B transcript variant X4 XM_047444039.1:c.-650-12940= XM_047444039.1:c.-650-12940A>T XM_047444039.1:c.-650-12940A>G
BAZ2B transcript variant X6 XM_047444040.1:c.-548+26967= XM_047444040.1:c.-548+26967A>T XM_047444040.1:c.-548+26967A>G
BAZ2B transcript variant X7 XM_047444041.1:c.-650-12937= XM_047444041.1:c.-650-12937A>T XM_047444041.1:c.-650-12937A>G
BAZ2B transcript variant X8 XM_047444042.1:c.-653-12937= XM_047444042.1:c.-653-12937A>T XM_047444042.1:c.-653-12937A>G
BAZ2B transcript variant X9 XM_047444043.1:c.-581-12940= XM_047444043.1:c.-581-12940A>T XM_047444043.1:c.-581-12940A>G
BAZ2B transcript variant X10 XM_047444044.1:c.-508-12940= XM_047444044.1:c.-508-12940A>T XM_047444044.1:c.-508-12940A>G
BAZ2B transcript variant X11 XM_047444045.1:c.-511-12937= XM_047444045.1:c.-511-12937A>T XM_047444045.1:c.-511-12937A>G
BAZ2B transcript variant X12 XM_047444046.1:c.-545+26967= XM_047444046.1:c.-545+26967A>T XM_047444046.1:c.-545+26967A>G
BAZ2B transcript variant X13 XM_047444047.1:c.-479+26967= XM_047444047.1:c.-479+26967A>T XM_047444047.1:c.-479+26967A>G
BAZ2B transcript variant X15 XM_047444048.1:c.-1452-12940= XM_047444048.1:c.-1452-12940A>T XM_047444048.1:c.-1452-12940A>G
BAZ2B transcript variant X24 XM_047444052.1:c.-647-12940= XM_047444052.1:c.-647-12940A>T XM_047444052.1:c.-647-12940A>G
BAZ2B transcript variant X29 XM_047444055.1:c.-647-12940= XM_047444055.1:c.-647-12940A>T XM_047444055.1:c.-647-12940A>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#.

105 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11432678 Jul 11, 2003 (116)
2 ABI ss41770293 Mar 13, 2006 (126)
3 ILLUMINA ss75142970 Dec 06, 2007 (129)
4 HGSV ss86021352 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss91413987 Mar 24, 2008 (129)
6 HUMANGENOME_JCVI ss97093239 Feb 05, 2009 (130)
7 BGI ss106132667 Feb 05, 2009 (130)
8 1000GENOMES ss110146597 Jan 24, 2009 (130)
9 KRIBB_YJKIM ss119557788 Dec 01, 2009 (131)
10 ENSEMBL ss136089213 Dec 01, 2009 (131)
11 ENSEMBL ss138564576 Dec 01, 2009 (131)
12 GMI ss157899728 Dec 01, 2009 (131)
13 ILLUMINA ss160888165 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss165514587 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss167357170 Jul 04, 2010 (132)
16 ILLUMINA ss174416171 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss205732046 Jul 04, 2010 (132)
18 1000GENOMES ss231438774 Jul 14, 2010 (132)
19 1000GENOMES ss238931595 Jul 15, 2010 (132)
20 BL ss253622057 May 09, 2011 (134)
21 GMI ss276755147 May 04, 2012 (137)
22 GMI ss284471980 Apr 25, 2013 (138)
23 PJP ss292410908 May 09, 2011 (134)
24 ILLUMINA ss481593590 May 04, 2012 (137)
25 ILLUMINA ss481623572 May 04, 2012 (137)
26 ILLUMINA ss482593322 Sep 08, 2015 (146)
27 ILLUMINA ss485591737 May 04, 2012 (137)
28 ILLUMINA ss537482108 Sep 08, 2015 (146)
29 TISHKOFF ss555990253 Apr 25, 2013 (138)
30 SSMP ss649634267 Apr 25, 2013 (138)
31 ILLUMINA ss778977471 Aug 21, 2014 (142)
32 ILLUMINA ss783241466 Aug 21, 2014 (142)
33 ILLUMINA ss784195274 Aug 21, 2014 (142)
34 ILLUMINA ss832502045 Apr 01, 2015 (144)
35 ILLUMINA ss834439586 Aug 21, 2014 (142)
36 EVA-GONL ss977560823 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1069644284 Aug 21, 2014 (142)
38 1000GENOMES ss1300110026 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397309875 Sep 08, 2015 (146)
40 DDI ss1428797424 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1579166557 Apr 01, 2015 (144)
42 EVA_DECODE ss1586995455 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1604977469 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1647971502 Apr 01, 2015 (144)
45 EVA_SVP ss1712503758 Apr 01, 2015 (144)
46 ILLUMINA ss1752319472 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1920813898 Feb 12, 2016 (147)
48 GENOMED ss1968934638 Jul 19, 2016 (147)
49 JJLAB ss2020937930 Sep 14, 2016 (149)
50 USC_VALOUEV ss2149003177 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2235909619 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2624973620 Nov 08, 2017 (151)
53 ILLUMINA ss2633695309 Nov 08, 2017 (151)
54 GRF ss2703636631 Nov 08, 2017 (151)
55 GNOMAD ss2781903073 Nov 08, 2017 (151)
56 SWEGEN ss2990737707 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3024231070 Nov 08, 2017 (151)
58 CSHL ss3344569263 Nov 08, 2017 (151)
59 ILLUMINA ss3628204626 Oct 11, 2018 (152)
60 ILLUMINA ss3631657663 Oct 11, 2018 (152)
61 ILLUMINA ss3633222395 Oct 11, 2018 (152)
62 ILLUMINA ss3633935108 Oct 11, 2018 (152)
63 ILLUMINA ss3634794967 Oct 11, 2018 (152)
64 ILLUMINA ss3635620812 Oct 11, 2018 (152)
65 ILLUMINA ss3636484345 Oct 11, 2018 (152)
66 ILLUMINA ss3637372795 Oct 11, 2018 (152)
67 ILLUMINA ss3638297648 Oct 11, 2018 (152)
68 ILLUMINA ss3640502266 Oct 11, 2018 (152)
69 ILLUMINA ss3641115598 Oct 11, 2018 (152)
70 ILLUMINA ss3641411646 Oct 11, 2018 (152)
71 ILLUMINA ss3643263850 Oct 11, 2018 (152)
72 URBANLAB ss3647188834 Oct 11, 2018 (152)
73 EGCUT_WGS ss3658600465 Jul 13, 2019 (153)
74 EVA_DECODE ss3705267656 Jul 13, 2019 (153)
75 ACPOP ss3729037965 Jul 13, 2019 (153)
76 ILLUMINA ss3745094822 Jul 13, 2019 (153)
77 EVA ss3757622864 Jul 13, 2019 (153)
78 ILLUMINA ss3772591442 Jul 13, 2019 (153)
79 PACBIO ss3784045671 Jul 13, 2019 (153)
80 PACBIO ss3789601096 Jul 13, 2019 (153)
81 PACBIO ss3794474071 Jul 13, 2019 (153)
82 KHV_HUMAN_GENOMES ss3801982970 Jul 13, 2019 (153)
83 EVA ss3827316419 Apr 25, 2020 (154)
84 EVA ss3837074949 Apr 25, 2020 (154)
85 EVA ss3842494448 Apr 25, 2020 (154)
86 SGDP_PRJ ss3853811222 Apr 25, 2020 (154)
87 KRGDB ss3899423752 Apr 25, 2020 (154)
88 KOGIC ss3949345418 Apr 25, 2020 (154)
89 EVA ss4017030191 Apr 26, 2021 (155)
90 TOPMED ss4530910246 Apr 26, 2021 (155)
91 TOMMO_GENOMICS ss5154756257 Apr 26, 2021 (155)
92 1000G_HIGH_COVERAGE ss5250692979 Oct 13, 2022 (156)
93 EVA ss5314782457 Oct 13, 2022 (156)
94 EVA ss5333593290 Oct 13, 2022 (156)
95 HUGCELL_USP ss5450436213 Oct 13, 2022 (156)
96 EVA ss5506659940 Oct 13, 2022 (156)
97 1000G_HIGH_COVERAGE ss5527333095 Oct 13, 2022 (156)
98 SANFORD_IMAGENETICS ss5630196244 Oct 13, 2022 (156)
99 TOMMO_GENOMICS ss5685136204 Oct 13, 2022 (156)
100 EVA ss5799550380 Oct 13, 2022 (156)
101 YY_MCH ss5802893721 Oct 13, 2022 (156)
102 EVA ss5821070443 Oct 13, 2022 (156)
103 EVA ss5852797343 Oct 13, 2022 (156)
104 EVA ss5933160061 Oct 13, 2022 (156)
105 EVA ss5956414242 Oct 13, 2022 (156)
106 1000Genomes NC_000002.11 - 160540261 Oct 11, 2018 (152)
107 1000Genomes_30x NC_000002.12 - 159683750 Oct 13, 2022 (156)
108 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 160540261 Oct 11, 2018 (152)
109 Genome-wide autozygosity in Daghestan NC_000002.10 - 160248507 Apr 25, 2020 (154)
110 Genetic variation in the Estonian population NC_000002.11 - 160540261 Oct 11, 2018 (152)
111 The Danish reference pan genome NC_000002.11 - 160540261 Apr 25, 2020 (154)
112 gnomAD - Genomes NC_000002.12 - 159683750 Apr 26, 2021 (155)
113 Genome of the Netherlands Release 5 NC_000002.11 - 160540261 Apr 25, 2020 (154)
114 HapMap NC_000002.12 - 159683750 Apr 25, 2020 (154)
115 KOREAN population from KRGDB NC_000002.11 - 160540261 Apr 25, 2020 (154)
116 Korean Genome Project NC_000002.12 - 159683750 Apr 25, 2020 (154)
117 Northern Sweden NC_000002.11 - 160540261 Jul 13, 2019 (153)
118 Qatari NC_000002.11 - 160540261 Apr 25, 2020 (154)
119 SGDP_PRJ NC_000002.11 - 160540261 Apr 25, 2020 (154)
120 Siberian NC_000002.11 - 160540261 Apr 25, 2020 (154)
121 8.3KJPN NC_000002.11 - 160540261 Apr 26, 2021 (155)
122 14KJPN NC_000002.12 - 159683750 Oct 13, 2022 (156)
123 TopMed NC_000002.12 - 159683750 Apr 26, 2021 (155)
124 UK 10K study - Twins NC_000002.11 - 160540261 Oct 11, 2018 (152)
125 A Vietnamese Genetic Variation Database NC_000002.11 - 160540261 Jul 13, 2019 (153)
126 ALFA NC_000002.12 - 159683750 Apr 26, 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)
rs59294335 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6601146, ss3899423752 NC_000002.11:160540260:T:A NC_000002.12:159683749:T:A (self)
8972365588 NC_000002.12:159683749:T:A NC_000002.12:159683749:T:A (self)
ss86021352 NC_000002.9:160365767:T:C NC_000002.12:159683749:T:C (self)
259769, ss91413987, ss110146597, ss160888165, ss165514587, ss167357170, ss205732046, ss253622057, ss276755147, ss284471980, ss292410908, ss481593590, ss1397309875, ss1586995455, ss1712503758, ss3643263850 NC_000002.10:160248506:T:C NC_000002.12:159683749:T:C (self)
11155208, 6151414, 4338713, 5331496, 2703152, 6601146, 2322830, 2855828, 5828202, 1519531, 12725564, 6151414, 1334919, ss231438774, ss238931595, ss481623572, ss482593322, ss485591737, ss537482108, ss555990253, ss649634267, ss778977471, ss783241466, ss784195274, ss832502045, ss834439586, ss977560823, ss1069644284, ss1300110026, ss1428797424, ss1579166557, ss1604977469, ss1647971502, ss1752319472, ss1920813898, ss1968934638, ss2020937930, ss2149003177, ss2624973620, ss2633695309, ss2703636631, ss2781903073, ss2990737707, ss3344569263, ss3628204626, ss3631657663, ss3633222395, ss3633935108, ss3634794967, ss3635620812, ss3636484345, ss3637372795, ss3638297648, ss3640502266, ss3641115598, ss3641411646, ss3658600465, ss3729037965, ss3745094822, ss3757622864, ss3772591442, ss3784045671, ss3789601096, ss3794474071, ss3827316419, ss3837074949, ss3853811222, ss3899423752, ss4017030191, ss5154756257, ss5314782457, ss5333593290, ss5506659940, ss5630196244, ss5799550380, ss5821070443, ss5956414242 NC_000002.11:160540260:T:C NC_000002.12:159683749:T:C (self)
14859030, 79524306, 1933081, 5723419, 18973308, 334733125, 8972365588, ss2235909619, ss3024231070, ss3647188834, ss3705267656, ss3801982970, ss3842494448, ss3949345418, ss4530910246, ss5250692979, ss5450436213, ss5527333095, ss5685136204, ss5802893721, ss5852797343, ss5933160061 NC_000002.12:159683749:T:C NC_000002.12:159683749:T:C (self)
ss11432678 NT_005403.13:10699598:T:C NC_000002.12:159683749:T:C (self)
ss41770293, ss75142970, ss97093239, ss106132667, ss119557788, ss136089213, ss138564576, ss157899728, ss174416171 NT_005403.17:10749678:T:C NC_000002.12:159683749: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 rs7556888

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