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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.

rs4072537

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1129916 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.286811 (75916/264690, TOPMED)
T=0.294574 (41172/139768, GnomAD)
T=0.27071 (21304/78698, PAGE_STUDY) (+ 15 more)
T=0.30760 (12146/39486, ALFA)
T=0.40588 (6801/16756, 8.3KJPN)
T=0.2778 (1391/5008, 1000G)
T=0.3366 (1508/4480, Estonian)
T=0.3142 (1211/3854, ALSPAC)
T=0.3193 (1184/3708, TWINSUK)
T=0.3962 (1161/2930, KOREAN)
T=0.3870 (709/1832, Korea1K)
T=0.335 (334/998, GoNL)
T=0.272 (163/600, NorthernSweden)
T=0.177 (91/514, SGDP_PRJ)
T=0.273 (59/216, Qatari)
T=0.383 (79/206, Vietnamese)
T=0.27 (13/48, Siberian)
T=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
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 1 NC_000001.11:g.1129916T>A
GRCh38.p13 chr 1 NC_000001.11:g.1129916T>C
GRCh37.p13 chr 1 NC_000001.10:g.1065296T>A
GRCh37.p13 chr 1 NC_000001.10:g.1065296T>C
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 39486 T=0.30760 A=0.00000, C=0.69240
European Sub 30342 T=0.31817 A=0.00000, C=0.68183
African Sub 5736 T=0.2558 A=0.0000, C=0.7442
African Others Sub 186 T=0.274 A=0.000, C=0.726
African American Sub 5550 T=0.2551 A=0.0000, C=0.7449
Asian Sub 162 T=0.426 A=0.000, C=0.574
East Asian Sub 134 T=0.425 A=0.000, C=0.575
Other Asian Sub 28 T=0.43 A=0.00, C=0.57
Latin American 1 Sub 168 T=0.250 A=0.000, C=0.750
Latin American 2 Sub 700 T=0.234 A=0.000, C=0.766
South Asian Sub 120 T=0.258 A=0.000, C=0.742
Other Sub 2258 T=0.3184 A=0.0000, C=0.6816


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=0.286811 C=0.713189
gnomAD - Genomes Global Study-wide 139768 T=0.294574 C=0.705426
gnomAD - Genomes European Sub 75726 T=0.32739 C=0.67261
gnomAD - Genomes African Sub 41846 T=0.23990 C=0.76010
gnomAD - Genomes American Sub 13618 T=0.25209 C=0.74791
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.3165 C=0.6835
gnomAD - Genomes East Asian Sub 3114 T=0.4004 C=0.5996
gnomAD - Genomes Other Sub 2140 T=0.2846 C=0.7154
The PAGE Study Global Study-wide 78698 T=0.27071 C=0.72929
The PAGE Study AfricanAmerican Sub 32514 T=0.24546 C=0.75454
The PAGE Study Mexican Sub 10810 T=0.25939 C=0.74061
The PAGE Study Asian Sub 8318 T=0.3961 C=0.6039
The PAGE Study PuertoRican Sub 7918 T=0.2584 C=0.7416
The PAGE Study NativeHawaiian Sub 4534 T=0.3341 C=0.6659
The PAGE Study Cuban Sub 4228 T=0.2888 C=0.7112
The PAGE Study Dominican Sub 3828 T=0.2495 C=0.7505
The PAGE Study CentralAmerican Sub 2450 T=0.2196 C=0.7804
The PAGE Study SouthAmerican Sub 1982 T=0.1786 C=0.8214
The PAGE Study NativeAmerican Sub 1260 T=0.2857 C=0.7143
The PAGE Study SouthAsian Sub 856 T=0.275 C=0.725
8.3KJPN JAPANESE Study-wide 16756 T=0.40588 C=0.59412
1000Genomes Global Study-wide 5008 T=0.2778 C=0.7222
1000Genomes African Sub 1322 T=0.2103 C=0.7897
1000Genomes East Asian Sub 1008 T=0.4107 C=0.5893
1000Genomes Europe Sub 1006 T=0.3022 C=0.6978
1000Genomes South Asian Sub 978 T=0.251 C=0.749
1000Genomes American Sub 694 T=0.216 C=0.784
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3366 C=0.6634
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3142 C=0.6858
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3193 C=0.6807
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3962 C=0.6038
Korean Genome Project KOREAN Study-wide 1832 T=0.3870 C=0.6130
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.335 C=0.665
Northern Sweden ACPOP Study-wide 600 T=0.272 C=0.728
SGDP_PRJ Global Study-wide 514 T=0.177 C=0.823
Qatari Global Study-wide 216 T=0.273 C=0.727
A Vietnamese Genetic Variation Database Global Study-wide 206 T=0.383 C=0.617
Siberian Global Study-wide 48 T=0.27 C=0.73
The Danish reference pan genome Danish Study-wide 40 T=0.38 C=0.62
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.p13 chr 1 NC_000001.11:g.1129916= NC_000001.11:g.1129916T>A NC_000001.11:g.1129916T>C
GRCh37.p13 chr 1 NC_000001.10:g.1065296= NC_000001.10:g.1065296T>A NC_000001.10:g.1065296T>C
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#.

96 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5451735 Oct 10, 2002 (108)
2 SC_JCM ss5872735 Feb 20, 2003 (111)
3 WI_SSAHASNP ss11429401 Jul 11, 2003 (116)
4 SC_SNP ss13052173 Dec 05, 2003 (119)
5 SC_SNP ss14802091 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss16449596 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19144803 Feb 27, 2004 (120)
8 SSAHASNP ss20492342 Apr 05, 2004 (121)
9 PERLEGEN ss23837051 Sep 20, 2004 (123)
10 ABI ss41263063 Mar 14, 2006 (126)
11 ILLUMINA ss67313547 Nov 30, 2006 (127)
12 ILLUMINA ss67719643 Nov 30, 2006 (127)
13 ILLUMINA ss68224896 Dec 12, 2006 (127)
14 PERLEGEN ss68756319 May 17, 2007 (127)
15 KRIBB_YJKIM ss84222327 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss99179778 Feb 05, 2009 (130)
17 BGI ss102713640 Dec 01, 2009 (131)
18 1000GENOMES ss107938581 Jan 22, 2009 (130)
19 1000GENOMES ss109941484 Jan 24, 2009 (130)
20 ILLUMINA-UK ss118440213 Dec 01, 2009 (131)
21 ENSEMBL ss131634225 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162983560 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss163707724 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss165982781 Jul 04, 2010 (132)
25 BUSHMAN ss197889034 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss205393032 Jul 04, 2010 (132)
27 1000GENOMES ss218191985 Jul 14, 2010 (132)
28 1000GENOMES ss230396480 Jul 14, 2010 (132)
29 1000GENOMES ss238116031 Jul 15, 2010 (132)
30 BL ss252866308 May 09, 2011 (134)
31 GMI ss275682500 May 04, 2012 (137)
32 GMI ss283988016 Apr 25, 2013 (138)
33 PJP ss290494378 May 09, 2011 (134)
34 ILLUMINA ss482054544 May 04, 2012 (137)
35 ILLUMINA ss484192707 May 04, 2012 (137)
36 ILLUMINA ss536380737 Sep 08, 2015 (146)
37 TISHKOFF ss553713731 Apr 25, 2013 (138)
38 SSMP ss647518494 Apr 25, 2013 (138)
39 ILLUMINA ss780561614 Aug 21, 2014 (142)
40 ILLUMINA ss782542280 Aug 21, 2014 (142)
41 ILLUMINA ss836053890 Aug 21, 2014 (142)
42 EVA-GONL ss974772125 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067613767 Aug 21, 2014 (142)
44 1000GENOMES ss1289350804 Aug 21, 2014 (142)
45 DDI ss1425685898 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1573852069 Apr 01, 2015 (144)
47 EVA_DECODE ss1584132043 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1599382825 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1642376858 Apr 01, 2015 (144)
50 HAMMER_LAB ss1793717203 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1917964033 Feb 12, 2016 (147)
52 ILLUMINA ss1958230808 Feb 12, 2016 (147)
53 GENOMED ss1966667752 Jul 19, 2016 (147)
54 JJLAB ss2019499899 Sep 14, 2016 (149)
55 USC_VALOUEV ss2147486684 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2159387227 Dec 20, 2016 (150)
57 TOPMED ss2321526529 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2624265575 Nov 08, 2017 (151)
59 ILLUMINA ss2632465759 Nov 08, 2017 (151)
60 GRF ss2697377609 Nov 08, 2017 (151)
61 GNOMAD ss2750673241 Nov 08, 2017 (151)
62 AFFY ss2984841255 Nov 08, 2017 (151)
63 AFFY ss2985495011 Nov 08, 2017 (151)
64 SWEGEN ss2986154554 Nov 08, 2017 (151)
65 ILLUMINA ss3021043761 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3023514331 Nov 08, 2017 (151)
67 TOPMED ss3066475325 Nov 08, 2017 (151)
68 TOPMED ss3066475326 Nov 08, 2017 (151)
69 CSHL ss3343274355 Nov 08, 2017 (151)
70 ILLUMINA ss3626007119 Oct 11, 2018 (152)
71 ILLUMINA ss3630505795 Oct 11, 2018 (152)
72 ILLUMINA ss3638887872 Oct 11, 2018 (152)
73 ILLUMINA ss3639756841 Oct 11, 2018 (152)
74 ILLUMINA ss3641566338 Oct 11, 2018 (152)
75 ILLUMINA ss3643810772 Oct 11, 2018 (152)
76 URBANLAB ss3646581968 Oct 11, 2018 (152)
77 ILLUMINA ss3651365813 Oct 11, 2018 (152)
78 ILLUMINA ss3653615019 Oct 11, 2018 (152)
79 EGCUT_WGS ss3654265666 Jul 12, 2019 (153)
80 EVA_DECODE ss3685998235 Jul 12, 2019 (153)
81 ILLUMINA ss3724988478 Jul 12, 2019 (153)
82 ACPOP ss3726718810 Jul 12, 2019 (153)
83 EVA ss3745724457 Jul 12, 2019 (153)
84 PAGE_CC ss3770778842 Jul 12, 2019 (153)
85 PACBIO ss3783303055 Jul 12, 2019 (153)
86 PACBIO ss3788980829 Jul 12, 2019 (153)
87 PACBIO ss3793853378 Jul 12, 2019 (153)
88 KHV_HUMAN_GENOMES ss3798747061 Jul 12, 2019 (153)
89 EVA ss3825982672 Apr 25, 2020 (154)
90 EVA ss3836379034 Apr 25, 2020 (154)
91 EVA ss3841783061 Apr 25, 2020 (154)
92 SGDP_PRJ ss3848004258 Apr 25, 2020 (154)
93 KRGDB ss3892847101 Apr 25, 2020 (154)
94 KOGIC ss3943636606 Apr 25, 2020 (154)
95 TOPMED ss4436524007 Apr 25, 2021 (155)
96 TOMMO_GENOMICS ss5142067481 Apr 25, 2021 (155)
97 1000Genomes NC_000001.10 - 1065296 Oct 11, 2018 (152)
98 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1065296 Oct 11, 2018 (152)
99 Genetic variation in the Estonian population NC_000001.10 - 1065296 Oct 11, 2018 (152)
100 The Danish reference pan genome NC_000001.10 - 1065296 Apr 25, 2020 (154)
101 gnomAD - Genomes NC_000001.11 - 1129916 Apr 25, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000001.10 - 1065296 Apr 25, 2020 (154)
103 KOREAN population from KRGDB NC_000001.10 - 1065296 Apr 25, 2020 (154)
104 Korean Genome Project NC_000001.11 - 1129916 Apr 25, 2020 (154)
105 Northern Sweden NC_000001.10 - 1065296 Jul 12, 2019 (153)
106 The PAGE Study NC_000001.11 - 1129916 Jul 12, 2019 (153)
107 Qatari NC_000001.10 - 1065296 Apr 25, 2020 (154)
108 SGDP_PRJ NC_000001.10 - 1065296 Apr 25, 2020 (154)
109 Siberian NC_000001.10 - 1065296 Apr 25, 2020 (154)
110 8.3KJPN NC_000001.10 - 1065296 Apr 25, 2021 (155)
111 TopMed NC_000001.11 - 1129916 Apr 25, 2021 (155)
112 UK 10K study - Twins NC_000001.10 - 1065296 Oct 11, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000001.10 - 1065296 Jul 12, 2019 (153)
114 ALFA NC_000001.11 - 1129916 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)
rs34813285 Oct 15, 2006 (127)
rs58516161 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
11091397264, ss3066475325 NC_000001.11:1129915:T:A NC_000001.11:1129915:T:A (self)
ss3638887872, ss3639756841, ss3643810772 NC_000001.8:1105218:T:C NC_000001.11:1129915:T:C (self)
ss107938581, ss109941484, ss118440213, ss162983560, ss163707724, ss165982781, ss197889034, ss205393032, ss252866308, ss275682500, ss283988016, ss290494378, ss482054544, ss1584132043 NC_000001.9:1055158:T:C NC_000001.11:1129915:T:C (self)
15943, 5225, 3914, 1359303, 2403, 24495, 3675, 5963, 21238, 3038, 36788, 5225, 1164, ss218191985, ss230396480, ss238116031, ss484192707, ss536380737, ss553713731, ss647518494, ss780561614, ss782542280, ss836053890, ss974772125, ss1067613767, ss1289350804, ss1425685898, ss1573852069, ss1599382825, ss1642376858, ss1793717203, ss1917964033, ss1958230808, ss1966667752, ss2019499899, ss2147486684, ss2321526529, ss2624265575, ss2632465759, ss2697377609, ss2750673241, ss2984841255, ss2985495011, ss2986154554, ss3021043761, ss3343274355, ss3626007119, ss3630505795, ss3641566338, ss3651365813, ss3653615019, ss3654265666, ss3726718810, ss3745724457, ss3783303055, ss3788980829, ss3793853378, ss3825982672, ss3836379034, ss3848004258, ss3892847101, ss5142067481 NC_000001.10:1065295:T:C NC_000001.11:1129915:T:C (self)
145250, 14607, 311, 73930, 130342, 11091397264, ss2159387227, ss3023514331, ss3066475326, ss3646581968, ss3685998235, ss3724988478, ss3770778842, ss3798747061, ss3841783061, ss3943636606, ss4436524007 NC_000001.11:1129915:T:C NC_000001.11:1129915:T:C (self)
ss5451735, ss5872735, ss14802091, ss23837051, ss41263063, ss67313547, ss67719643, ss68224896, ss68756319, ss84222327, ss99179778, ss102713640, ss131634225 NT_004350.19:543927:T:C NC_000001.11:1129915:T:C (self)
ss16449596, ss19144803, ss20492342 NT_077913.2:69006:T:C NC_000001.11:1129915:T:C (self)
ss11429401, ss13052173 NT_077960.1:134736:T:C NC_000001.11:1129915: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 rs4072537

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