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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.

rs943288

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:95210155 (GRCh38.p13) 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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.149681 (39619/264690, TOPMED)
A=0.141773 (19878/140210, GnomAD)
A=0.13796 (2606/18890, ALFA) (+ 16 more)
A=0.34189 (5730/16760, 8.3KJPN)
A=0.1977 (990/5008, 1000G)
A=0.1469 (658/4480, Estonian)
A=0.1344 (518/3854, ALSPAC)
A=0.1216 (451/3708, TWINSUK)
A=0.3785 (1109/2930, KOREAN)
A=0.3684 (675/1832, Korea1K)
A=0.2500 (284/1136, Daghestan)
A=0.120 (120/998, GoNL)
A=0.082 (49/600, NorthernSweden)
A=0.228 (117/514, SGDP_PRJ)
A=0.187 (61/326, HapMap)
A=0.269 (58/216, Qatari)
A=0.250 (53/212, Vietnamese)
A=0.27 (14/52, Siberian)
A=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCC4 : Intron Variant
SNORD13G : 2KB Upstream Variant
Publications
1 citation
Genomic View
See rs on genome
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.p13 chr 13 NC_000013.11:g.95210155A>C
GRCh38.p13 chr 13 NC_000013.11:g.95210155A>G
GRCh38.p13 chr 13 NC_000013.11:g.95210155A>T
GRCh37.p13 chr 13 NC_000013.10:g.95862409A>C
GRCh37.p13 chr 13 NC_000013.10:g.95862409A>G
GRCh37.p13 chr 13 NC_000013.10:g.95862409A>T
ABCC4 RefSeqGene (LRG_1183) NG_050651.2:g.96292T>G
ABCC4 RefSeqGene (LRG_1183) NG_050651.2:g.96292T>C
ABCC4 RefSeqGene (LRG_1183) NG_050651.2:g.96292T>A
ABCC4 RefSeqGene NG_050651.1:g.96292T>G
ABCC4 RefSeqGene NG_050651.1:g.96292T>C
ABCC4 RefSeqGene NG_050651.1:g.96292T>A
Gene: ABCC4, ATP binding cassette subfamily C member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC4 transcript variant 2 NM_001105515.3:c.621+537T…

NM_001105515.3:c.621+537T>G

N/A Intron Variant
ABCC4 transcript variant 3 NM_001301829.2:c.621+537T…

NM_001301829.2:c.621+537T>G

N/A Intron Variant
ABCC4 transcript variant 4 NM_001301830.2:c.396+537T…

NM_001301830.2:c.396+537T>G

N/A Intron Variant
ABCC4 transcript variant 1 NM_005845.5:c.621+537T>G N/A Intron Variant
ABCC4 transcript variant X2 XM_005254025.2:c.492+537T…

XM_005254025.2:c.492+537T>G

N/A Intron Variant
ABCC4 transcript variant X1 XM_017020319.1:c.492+537T…

XM_017020319.1:c.492+537T>G

N/A Intron Variant
ABCC4 transcript variant X3 XM_017020320.2:c.621+537T…

XM_017020320.2:c.621+537T>G

N/A Intron Variant
ABCC4 transcript variant X5 XM_017020322.1:c.492+537T…

XM_017020322.1:c.492+537T>G

N/A Intron Variant
ABCC4 transcript variant X4 XM_017020321.1:c. N/A Genic Upstream Transcript Variant
Gene: SNORD13G, small nucleolar RNA, C/D box 13G (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SNORD13G transcript NR_145733.1:n. N/A 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 A=0.13796 T=0.86204
European Sub 14286 A=0.14259 T=0.85741
African Sub 2946 A=0.0835 T=0.9165
African Others Sub 114 A=0.053 T=0.947
African American Sub 2832 A=0.0847 T=0.9153
Asian Sub 112 A=0.295 T=0.705
East Asian Sub 86 A=0.26 T=0.74
Other Asian Sub 26 A=0.42 T=0.58
Latin American 1 Sub 146 A=0.185 T=0.815
Latin American 2 Sub 610 A=0.207 T=0.793
South Asian Sub 98 A=0.20 T=0.80
Other Sub 692 A=0.169 T=0.831


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 A=0.149681 T=0.850319
gnomAD - Genomes Global Study-wide 140210 A=0.141773 T=0.858227
gnomAD - Genomes European Sub 75924 A=0.14511 T=0.85489
gnomAD - Genomes African Sub 42028 A=0.09070 T=0.90930
gnomAD - Genomes American Sub 13654 A=0.20507 T=0.79493
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2681 T=0.7319
gnomAD - Genomes East Asian Sub 3126 A=0.3193 T=0.6807
gnomAD - Genomes Other Sub 2154 A=0.1671 T=0.8329
8.3KJPN JAPANESE Study-wide 16760 A=0.34189 T=0.65811
1000Genomes Global Study-wide 5008 A=0.1977 T=0.8023
1000Genomes African Sub 1322 A=0.0719 T=0.9281
1000Genomes East Asian Sub 1008 A=0.3056 T=0.6944
1000Genomes Europe Sub 1006 A=0.1630 T=0.8370
1000Genomes South Asian Sub 978 A=0.304 T=0.696
1000Genomes American Sub 694 A=0.182 T=0.818
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1469 T=0.8531
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1344 T=0.8656
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1216 T=0.8784
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3785 C=0.0000, G=0.0000, T=0.6215
Korean Genome Project KOREAN Study-wide 1832 A=0.3684 T=0.6316
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.2500 T=0.7500
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.218 T=0.782
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.243 T=0.757
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.361 T=0.639
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.231 T=0.769
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.33 T=0.67
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.31 T=0.69
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.120 T=0.880
Northern Sweden ACPOP Study-wide 600 A=0.082 T=0.918
SGDP_PRJ Global Study-wide 514 A=0.228 T=0.772
HapMap Global Study-wide 326 A=0.187 T=0.813
HapMap American Sub 120 A=0.117 T=0.883
HapMap African Sub 118 A=0.119 T=0.881
HapMap Asian Sub 88 A=0.38 T=0.62
Qatari Global Study-wide 216 A=0.269 T=0.731
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.250 T=0.750
Siberian Global Study-wide 52 A=0.27 T=0.73
The Danish reference pan genome Danish Study-wide 40 A=0.15 T=0.85
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 A= C G T
GRCh38.p13 chr 13 NC_000013.11:g.95210155= NC_000013.11:g.95210155A>C NC_000013.11:g.95210155A>G NC_000013.11:g.95210155A>T
GRCh37.p13 chr 13 NC_000013.10:g.95862409= NC_000013.10:g.95862409A>C NC_000013.10:g.95862409A>G NC_000013.10:g.95862409A>T
ABCC4 RefSeqGene (LRG_1183) NG_050651.2:g.96292= NG_050651.2:g.96292T>G NG_050651.2:g.96292T>C NG_050651.2:g.96292T>A
ABCC4 RefSeqGene NG_050651.1:g.96292= NG_050651.1:g.96292T>G NG_050651.1:g.96292T>C NG_050651.1:g.96292T>A
ABCC4 transcript variant 2 NM_001105515.1:c.621+537= NM_001105515.1:c.621+537T>G NM_001105515.1:c.621+537T>C NM_001105515.1:c.621+537T>A
ABCC4 transcript variant 2 NM_001105515.3:c.621+537= NM_001105515.3:c.621+537T>G NM_001105515.3:c.621+537T>C NM_001105515.3:c.621+537T>A
ABCC4 transcript variant 3 NM_001301829.2:c.621+537= NM_001301829.2:c.621+537T>G NM_001301829.2:c.621+537T>C NM_001301829.2:c.621+537T>A
ABCC4 transcript variant 4 NM_001301830.2:c.396+537= NM_001301830.2:c.396+537T>G NM_001301830.2:c.396+537T>C NM_001301830.2:c.396+537T>A
ABCC4 transcript variant 1 NM_005845.3:c.621+537= NM_005845.3:c.621+537T>G NM_005845.3:c.621+537T>C NM_005845.3:c.621+537T>A
ABCC4 transcript variant 1 NM_005845.5:c.621+537= NM_005845.5:c.621+537T>G NM_005845.5:c.621+537T>C NM_005845.5:c.621+537T>A
ABCC4 transcript variant X1 XM_005254025.1:c.492+537= XM_005254025.1:c.492+537T>G XM_005254025.1:c.492+537T>C XM_005254025.1:c.492+537T>A
ABCC4 transcript variant X2 XM_005254025.2:c.492+537= XM_005254025.2:c.492+537T>G XM_005254025.2:c.492+537T>C XM_005254025.2:c.492+537T>A
ABCC4 transcript variant X2 XM_005254026.1:c.621+537= XM_005254026.1:c.621+537T>G XM_005254026.1:c.621+537T>C XM_005254026.1:c.621+537T>A
ABCC4 transcript variant X3 XM_005254027.1:c.396+537= XM_005254027.1:c.396+537T>G XM_005254027.1:c.396+537T>C XM_005254027.1:c.396+537T>A
ABCC4 transcript variant X4 XM_005254028.1:c.396+537= XM_005254028.1:c.396+537T>G XM_005254028.1:c.396+537T>C XM_005254028.1:c.396+537T>A
ABCC4 transcript variant X1 XM_017020319.1:c.492+537= XM_017020319.1:c.492+537T>G XM_017020319.1:c.492+537T>C XM_017020319.1:c.492+537T>A
ABCC4 transcript variant X3 XM_017020320.2:c.621+537= XM_017020320.2:c.621+537T>G XM_017020320.2:c.621+537T>C XM_017020320.2:c.621+537T>A
ABCC4 transcript variant X5 XM_017020322.1:c.492+537= XM_017020322.1:c.492+537T>G XM_017020322.1:c.492+537T>C XM_017020322.1:c.492+537T>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#.

111 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1384407 Oct 05, 2000 (86)
2 SC_JCM ss2506865 Nov 09, 2000 (92)
3 TSC-CSHL ss5478139 Oct 08, 2002 (108)
4 RIKENSNPRC ss5602349 Dec 12, 2002 (110)
5 WI_SSAHASNP ss6586019 Feb 20, 2003 (111)
6 SC_SNP ss13197052 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss17502721 Feb 27, 2004 (120)
8 SSAHASNP ss21084191 Apr 05, 2004 (121)
9 PERLEGEN ss24224452 Sep 20, 2004 (123)
10 ABI ss43456428 Mar 13, 2006 (126)
11 AFFY ss74823374 Aug 16, 2007 (128)
12 ILLUMINA ss75258077 Dec 07, 2007 (129)
13 HGSV ss78823719 Dec 07, 2007 (129)
14 BCMHGSC_JDW ss89807136 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss97184255 Feb 06, 2009 (130)
16 BGI ss106360317 Feb 06, 2009 (130)
17 1000GENOMES ss108013655 Jan 22, 2009 (130)
18 ILLUMINA-UK ss118944449 Feb 15, 2009 (130)
19 KRIBB_YJKIM ss119374806 Dec 01, 2009 (131)
20 ENSEMBL ss133770588 Dec 01, 2009 (131)
21 ENSEMBL ss137130212 Dec 01, 2009 (131)
22 ILLUMINA ss154493826 Dec 01, 2009 (131)
23 GMI ss155254111 Dec 01, 2009 (131)
24 ILLUMINA ss159102513 Dec 01, 2009 (131)
25 ILLUMINA ss159667824 Dec 01, 2009 (131)
26 ILLUMINA ss160987007 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168576324 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss170506067 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss171580657 Jul 04, 2010 (132)
30 ILLUMINA ss174841790 Jul 04, 2010 (132)
31 BUSHMAN ss199584247 Jul 04, 2010 (132)
32 1000GENOMES ss211455528 Jul 14, 2010 (132)
33 1000GENOMES ss226358271 Jul 14, 2010 (132)
34 1000GENOMES ss236386721 Jul 15, 2010 (132)
35 1000GENOMES ss242851804 Jul 15, 2010 (132)
36 ILLUMINA ss244314635 Jul 04, 2010 (132)
37 BL ss255256305 May 09, 2011 (134)
38 GMI ss281842149 May 04, 2012 (137)
39 GMI ss286767643 Apr 25, 2013 (138)
40 PJP ss291511887 May 09, 2011 (134)
41 PAGE_STUDY ss469415028 May 04, 2012 (137)
42 ILLUMINA ss481899116 May 04, 2012 (137)
43 ILLUMINA ss481932235 May 04, 2012 (137)
44 ILLUMINA ss482889501 Sep 08, 2015 (146)
45 ILLUMINA ss485743554 May 04, 2012 (137)
46 ILLUMINA ss537598223 Sep 08, 2015 (146)
47 TISHKOFF ss563853143 Apr 25, 2013 (138)
48 SSMP ss659494253 Apr 25, 2013 (138)
49 ILLUMINA ss778342339 Aug 21, 2014 (142)
50 ILLUMINA ss783317554 Aug 21, 2014 (142)
51 ILLUMINA ss784269533 Aug 21, 2014 (142)
52 ILLUMINA ss832579095 Apr 01, 2015 (144)
53 ILLUMINA ss833178570 Aug 21, 2014 (142)
54 ILLUMINA ss833769398 Aug 21, 2014 (142)
55 ILLUMINA ss833796950 Aug 21, 2014 (142)
56 EVA-GONL ss990736630 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1079348512 Aug 21, 2014 (142)
58 1000GENOMES ss1349476481 Aug 21, 2014 (142)
59 HAMMER_LAB ss1397667526 Sep 08, 2015 (146)
60 DDI ss1427293276 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1577000231 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1630941708 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1673935741 Apr 01, 2015 (144)
64 EVA_DECODE ss1694726602 Apr 01, 2015 (144)
65 ILLUMINA ss1752119174 Sep 08, 2015 (146)
66 HAMMER_LAB ss1807745657 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1934097663 Feb 12, 2016 (147)
68 GENOMED ss1967867908 Jul 19, 2016 (147)
69 JJLAB ss2027822059 Sep 14, 2016 (149)
70 USC_VALOUEV ss2156188684 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2198968702 Dec 20, 2016 (150)
72 TOPMED ss2363154977 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2628398602 Nov 08, 2017 (151)
74 ILLUMINA ss2633100508 Nov 08, 2017 (151)
75 GRF ss2700582199 Nov 08, 2017 (151)
76 GNOMAD ss2923245576 Nov 08, 2017 (151)
77 SWEGEN ss3011539463 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3027732218 Nov 08, 2017 (151)
79 TOPMED ss3201028057 Nov 08, 2017 (151)
80 CSHL ss3350611389 Nov 08, 2017 (151)
81 ILLUMINA ss3627130240 Oct 12, 2018 (152)
82 ILLUMINA ss3631101831 Oct 12, 2018 (152)
83 ILLUMINA ss3633061163 Oct 12, 2018 (152)
84 ILLUMINA ss3633763891 Oct 12, 2018 (152)
85 ILLUMINA ss3634557169 Oct 12, 2018 (152)
86 ILLUMINA ss3635453720 Oct 12, 2018 (152)
87 ILLUMINA ss3636245917 Oct 12, 2018 (152)
88 ILLUMINA ss3637204815 Oct 12, 2018 (152)
89 ILLUMINA ss3638027542 Oct 12, 2018 (152)
90 ILLUMINA ss3640264498 Oct 12, 2018 (152)
91 ILLUMINA ss3643016106 Oct 12, 2018 (152)
92 URBANLAB ss3650110408 Oct 12, 2018 (152)
93 EGCUT_WGS ss3678822474 Jul 13, 2019 (153)
94 EVA_DECODE ss3695918206 Jul 13, 2019 (153)
95 ACPOP ss3740034417 Jul 13, 2019 (153)
96 ILLUMINA ss3744857816 Jul 13, 2019 (153)
97 EVA ss3751851016 Jul 13, 2019 (153)
98 ILLUMINA ss3772356868 Jul 13, 2019 (153)
99 PACBIO ss3787551761 Jul 13, 2019 (153)
100 PACBIO ss3792605419 Jul 13, 2019 (153)
101 PACBIO ss3797489202 Jul 13, 2019 (153)
102 KHV_HUMAN_GENOMES ss3817182866 Jul 13, 2019 (153)
103 EVA ss3833715161 Apr 27, 2020 (154)
104 EVA ss3840446980 Apr 27, 2020 (154)
105 EVA ss3845934417 Apr 27, 2020 (154)
106 SGDP_PRJ ss3880640331 Apr 27, 2020 (154)
107 KRGDB ss3929560389 Apr 27, 2020 (154)
108 KOGIC ss3974151905 Apr 27, 2020 (154)
109 EVA ss4017648984 Apr 26, 2021 (155)
110 TOPMED ss4957658526 Apr 26, 2021 (155)
111 TOMMO_GENOMICS ss5211421544 Apr 26, 2021 (155)
112 1000Genomes NC_000013.10 - 95862409 Oct 12, 2018 (152)
113 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 95862409 Oct 12, 2018 (152)
114 Genome-wide autozygosity in Daghestan NC_000013.9 - 94660410 Apr 27, 2020 (154)
115 Genetic variation in the Estonian population NC_000013.10 - 95862409 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000013.10 - 95862409 Apr 27, 2020 (154)
117 gnomAD - Genomes NC_000013.11 - 95210155 Apr 26, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000013.10 - 95862409 Apr 27, 2020 (154)
119 HapMap NC_000013.11 - 95210155 Apr 27, 2020 (154)
120 KOREAN population from KRGDB NC_000013.10 - 95862409 Apr 27, 2020 (154)
121 Korean Genome Project NC_000013.11 - 95210155 Apr 27, 2020 (154)
122 Northern Sweden NC_000013.10 - 95862409 Jul 13, 2019 (153)
123 Qatari NC_000013.10 - 95862409 Apr 27, 2020 (154)
124 SGDP_PRJ NC_000013.10 - 95862409 Apr 27, 2020 (154)
125 Siberian NC_000013.10 - 95862409 Apr 27, 2020 (154)
126 8.3KJPN NC_000013.10 - 95862409 Apr 26, 2021 (155)
127 TopMed NC_000013.11 - 95210155 Apr 26, 2021 (155)
128 UK 10K study - Twins NC_000013.10 - 95862409 Oct 12, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000013.10 - 95862409 Jul 13, 2019 (153)
130 ALFA NC_000013.11 - 95210155 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)
rs1678402 Jan 18, 2001 (92)
rs17300844 Oct 08, 2004 (123)
rs52799644 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
36737783, ss3929560389 NC_000013.10:95862408:A:C NC_000013.11:95210154:A:C (self)
36737783, ss3929560389 NC_000013.10:95862408:A:G NC_000013.11:95210154:A:G (self)
138036, ss78823719, ss89807136, ss108013655, ss118944449, ss160987007, ss168576324, ss170506067, ss171580657, ss199584247, ss211455528, ss244314635, ss255256305, ss281842149, ss286767643, ss291511887, ss481899116, ss1397667526, ss1694726602, ss3643016106 NC_000013.9:94660409:A:T NC_000013.11:95210154:A:T (self)
62398742, 34669241, 24560722, 3438135, 15480687, 36737783, 13319282, 16139593, 32657311, 8705038, 69390851, 34669241, 7707184, ss226358271, ss236386721, ss242851804, ss481932235, ss482889501, ss485743554, ss537598223, ss563853143, ss659494253, ss778342339, ss783317554, ss784269533, ss832579095, ss833178570, ss833769398, ss833796950, ss990736630, ss1079348512, ss1349476481, ss1427293276, ss1577000231, ss1630941708, ss1673935741, ss1752119174, ss1807745657, ss1934097663, ss1967867908, ss2027822059, ss2156188684, ss2363154977, ss2628398602, ss2633100508, ss2700582199, ss2923245576, ss3011539463, ss3350611389, ss3627130240, ss3631101831, ss3633061163, ss3633763891, ss3634557169, ss3635453720, ss3636245917, ss3637204815, ss3638027542, ss3640264498, ss3678822474, ss3740034417, ss3744857816, ss3751851016, ss3772356868, ss3787551761, ss3792605419, ss3797489202, ss3833715161, ss3840446980, ss3880640331, ss3929560389, ss4017648984, ss5211421544 NC_000013.10:95862408:A:T NC_000013.11:95210154:A:T (self)
440047154, 1063241, 30529906, 108390624, 173204184, 9415364605, ss2198968702, ss3027732218, ss3201028057, ss3650110408, ss3695918206, ss3817182866, ss3845934417, ss3974151905, ss4957658526 NC_000013.11:95210154:A:T NC_000013.11:95210154:A:T (self)
ss13197052 NT_009952.13:8952083:A:T NC_000013.11:95210154:A:T (self)
ss1384407, ss2506865, ss5478139, ss5602349, ss6586019, ss17502721, ss21084191, ss24224452, ss43456428, ss74823374, ss75258077, ss97184255, ss106360317, ss119374806, ss133770588, ss137130212, ss154493826, ss155254111, ss159102513, ss159667824, ss174841790, ss469415028 NT_009952.14:8952084:A:T NC_000013.11:95210154:A:T (self)
Help

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

1 citation for rs943288
PMID Title Author Year Journal
20200426 Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy. Moyer AM et al. 2010 Cancer epidemiology, biomarkers & prevention
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.post596+ae089ad