Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs4728029

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:125813200 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.326038 (86299/264690, TOPMED)
A=0.433106 (98477/227374, ALFA)
A=0.353594 (49484/139946, GnomAD) (+ 22 more)
A=0.24309 (19092/78540, PAGE_STUDY)
A=0.43602 (12321/28258, 14KJPN)
A=0.43448 (7281/16758, 8.3KJPN)
A=0.2931 (1877/6404, 1000G_30x)
A=0.2993 (1499/5008, 1000G)
G=0.4647 (2082/4480, Estonian)
A=0.4616 (1779/3854, ALSPAC)
A=0.4709 (1746/3708, TWINSUK)
A=0.3911 (1146/2930, KOREAN)
A=0.2887 (600/2078, HGDP_Stanford)
A=0.2701 (503/1862, HapMap)
A=0.3595 (407/1132, Daghestan)
A=0.467 (466/998, GoNL)
A=0.359 (280/780, PRJEB37584)
A=0.321 (201/626, Chileans)
A=0.398 (239/600, NorthernSweden)
G=0.374 (83/222, SGDP_PRJ)
A=0.361 (78/216, Qatari)
A=0.394 (85/216, Vietnamese)
G=0.46 (26/56, Ancient Sardinia)
G=0.45 (18/40, GENOME_DK)
G=0.31 (11/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 232410 G=0.568267 A=0.431733, C=0.000000
European Sub 196890 G=0.538666 A=0.461334, C=0.000000
African Sub 11084 G=0.86711 A=0.13289, C=0.00000
African Others Sub 400 G=0.935 A=0.065, C=0.000
African American Sub 10684 G=0.86456 A=0.13544, C=0.00000
Asian Sub 530 G=0.664 A=0.336, C=0.000
East Asian Sub 384 G=0.641 A=0.359, C=0.000
Other Asian Sub 146 G=0.726 A=0.274, C=0.000
Latin American 1 Sub 940 G=0.698 A=0.302, C=0.000
Latin American 2 Sub 8700 G=0.7298 A=0.2702, C=0.0000
South Asian Sub 5038 G=0.6562 A=0.3438, C=0.0000
Other Sub 9228 G=0.6219 A=0.3781, 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
TopMed Global Study-wide 264690 G=0.673962 A=0.326038
Allele Frequency Aggregator Total Global 227374 G=0.566894 A=0.433106, C=0.000000
Allele Frequency Aggregator European Sub 193796 G=0.538685 A=0.461315, C=0.000000
Allele Frequency Aggregator African Sub 9942 G=0.8688 A=0.1312, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 8700 G=0.7298 A=0.2702, C=0.0000
Allele Frequency Aggregator Other Sub 8428 G=0.6171 A=0.3829, C=0.0000
Allele Frequency Aggregator South Asian Sub 5038 G=0.6562 A=0.3438, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 940 G=0.698 A=0.302, C=0.000
Allele Frequency Aggregator Asian Sub 530 G=0.664 A=0.336, C=0.000
gnomAD - Genomes Global Study-wide 139946 G=0.646406 A=0.353594
gnomAD - Genomes European Sub 75788 G=0.52153 A=0.47847
gnomAD - Genomes African Sub 41956 G=0.86722 A=0.13278
gnomAD - Genomes American Sub 13630 G=0.68364 A=0.31636
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.5531 A=0.4469
gnomAD - Genomes East Asian Sub 3118 G=0.6334 A=0.3666
gnomAD - Genomes Other Sub 2140 G=0.6659 A=0.3341
The PAGE Study Global Study-wide 78540 G=0.75691 A=0.24309
The PAGE Study AfricanAmerican Sub 32478 G=0.86243 A=0.13757
The PAGE Study Mexican Sub 10776 G=0.73441 A=0.26559
The PAGE Study Asian Sub 8290 G=0.5745 A=0.4255
The PAGE Study PuertoRican Sub 7904 G=0.6881 A=0.3119
The PAGE Study NativeHawaiian Sub 4522 G=0.7161 A=0.2839
The PAGE Study Cuban Sub 4226 G=0.6252 A=0.3748
The PAGE Study Dominican Sub 3822 G=0.7412 A=0.2588
The PAGE Study CentralAmerican Sub 2442 G=0.7342 A=0.2658
The PAGE Study SouthAmerican Sub 1972 G=0.7241 A=0.2759
The PAGE Study NativeAmerican Sub 1254 G=0.6826 A=0.3174
The PAGE Study SouthAsian Sub 854 G=0.623 A=0.377
14KJPN JAPANESE Study-wide 28258 G=0.56398 A=0.43602
8.3KJPN JAPANESE Study-wide 16758 G=0.56552 A=0.43448
1000Genomes_30x Global Study-wide 6404 G=0.7069 A=0.2931
1000Genomes_30x African Sub 1786 G=0.9328 A=0.0672
1000Genomes_30x Europe Sub 1266 G=0.5047 A=0.4953
1000Genomes_30x South Asian Sub 1202 G=0.6456 A=0.3544
1000Genomes_30x East Asian Sub 1170 G=0.6393 A=0.3607
1000Genomes_30x American Sub 980 G=0.712 A=0.288
1000Genomes Global Study-wide 5008 G=0.7007 A=0.2993
1000Genomes African Sub 1322 G=0.9357 A=0.0643
1000Genomes East Asian Sub 1008 G=0.6270 A=0.3730
1000Genomes Europe Sub 1006 G=0.5129 A=0.4871
1000Genomes South Asian Sub 978 G=0.642 A=0.358
1000Genomes American Sub 694 G=0.715 A=0.285
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4647 A=0.5353
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5384 A=0.4616
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5291 A=0.4709
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6089 A=0.3911, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2078 G=0.7113 A=0.2887
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.706 A=0.294
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 412 G=0.612 A=0.388
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 G=0.626 A=0.374
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.535 A=0.465
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.942 A=0.058
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.954 A=0.046
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1862 G=0.7299 A=0.2701
HapMap American Sub 764 G=0.645 A=0.355
HapMap African Sub 676 G=0.935 A=0.065
HapMap Asian Sub 246 G=0.565 A=0.435
HapMap Europe Sub 176 G=0.540 A=0.460
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.6405 A=0.3595
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.671 A=0.329
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.625 A=0.375
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.615 A=0.385
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.472 A=0.528
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.64 A=0.36
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.75 A=0.25
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.533 A=0.467
CNV burdens in cranial meningiomas Global Study-wide 780 G=0.641 A=0.359
CNV burdens in cranial meningiomas CRM Sub 780 G=0.641 A=0.359
Chileans Chilean Study-wide 626 G=0.679 A=0.321
Northern Sweden ACPOP Study-wide 600 G=0.602 A=0.398
SGDP_PRJ Global Study-wide 222 G=0.374 A=0.626
Qatari Global Study-wide 216 G=0.639 A=0.361
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.606 A=0.394
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
Siberian Global Study-wide 36 G=0.31 A=0.69
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 7 NC_000007.14:g.125813200G>A
GRCh38.p14 chr 7 NC_000007.14:g.125813200G>C
GRCh37.p13 chr 7 NC_000007.13:g.125453254G>A
GRCh37.p13 chr 7 NC_000007.13:g.125453254G>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
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 G= A C
GRCh38.p14 chr 7 NC_000007.14:g.125813200= NC_000007.14:g.125813200G>A NC_000007.14:g.125813200G>C
GRCh37.p13 chr 7 NC_000007.13:g.125453254= NC_000007.13:g.125453254G>A NC_000007.13:g.125453254G>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#.

130 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6516533 Feb 20, 2003 (111)
2 PERLEGEN ss24473079 Sep 20, 2004 (123)
3 ABI ss44822903 Mar 13, 2006 (126)
4 AFFY ss66258441 Nov 30, 2006 (127)
5 ILLUMINA ss66651831 Nov 30, 2006 (127)
6 ILLUMINA ss67365931 Nov 30, 2006 (127)
7 ILLUMINA ss67750685 Nov 30, 2006 (127)
8 ILLUMINA ss70819574 May 24, 2008 (130)
9 ILLUMINA ss71400893 May 17, 2007 (127)
10 ILLUMINA ss75617254 Dec 07, 2007 (129)
11 AFFY ss76403551 Dec 07, 2007 (129)
12 ILLUMINA ss79191916 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84331594 Dec 15, 2007 (130)
14 HUMANGENOME_JCVI ss98333878 Feb 05, 2009 (130)
15 BGI ss104466386 Dec 01, 2009 (131)
16 1000GENOMES ss112510007 Jan 25, 2009 (130)
17 ILLUMINA ss122367944 Dec 01, 2009 (131)
18 ILLUMINA ss154311528 Dec 01, 2009 (131)
19 GMI ss155460374 Dec 01, 2009 (131)
20 ILLUMINA ss159488226 Dec 01, 2009 (131)
21 ILLUMINA ss160703587 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162689887 Jul 04, 2010 (132)
23 ILLUMINA ss171884097 Jul 04, 2010 (132)
24 AFFY ss173485831 Jul 04, 2010 (132)
25 ILLUMINA ss173792278 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss208283724 Jul 04, 2010 (132)
27 1000GENOMES ss223318018 Jul 14, 2010 (132)
28 1000GENOMES ss234157049 Jul 15, 2010 (132)
29 1000GENOMES ss241073076 Jul 15, 2010 (132)
30 GMI ss279520362 May 04, 2012 (137)
31 GMI ss285713760 Apr 25, 2013 (138)
32 PJP ss293960881 May 09, 2011 (134)
33 ILLUMINA ss481021020 May 04, 2012 (137)
34 ILLUMINA ss481042021 May 04, 2012 (137)
35 ILLUMINA ss482028669 Sep 08, 2015 (146)
36 ILLUMINA ss485305521 May 04, 2012 (137)
37 ILLUMINA ss537264713 Sep 08, 2015 (146)
38 TISHKOFF ss560288986 Apr 25, 2013 (138)
39 SSMP ss654696589 Apr 25, 2013 (138)
40 ILLUMINA ss778916381 Sep 08, 2015 (146)
41 ILLUMINA ss783098589 Sep 08, 2015 (146)
42 ILLUMINA ss784055873 Sep 08, 2015 (146)
43 ILLUMINA ss825522434 Apr 01, 2015 (144)
44 ILLUMINA ss832357138 Sep 08, 2015 (146)
45 ILLUMINA ss832999635 Jul 13, 2019 (153)
46 ILLUMINA ss834377775 Sep 08, 2015 (146)
47 EVA-GONL ss984772515 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1074963852 Aug 21, 2014 (142)
49 1000GENOMES ss1327045188 Aug 21, 2014 (142)
50 HAMMER_LAB ss1397505412 Sep 08, 2015 (146)
51 DDI ss1431271472 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1582391570 Apr 01, 2015 (144)
53 EVA_DECODE ss1594361272 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1619166995 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1662161028 Apr 01, 2015 (144)
56 EVA_SVP ss1712985496 Apr 01, 2015 (144)
57 ILLUMINA ss1752662493 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1928031989 Feb 12, 2016 (147)
59 ILLUMINA ss1946219997 Feb 12, 2016 (147)
60 ILLUMINA ss1959049137 Feb 12, 2016 (147)
61 GENOMED ss1970811118 Jul 19, 2016 (147)
62 JJLAB ss2024702360 Sep 14, 2016 (149)
63 USC_VALOUEV ss2152923669 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2297675392 Dec 20, 2016 (150)
65 ILLUMINA ss2634657048 Nov 08, 2017 (151)
66 GRF ss2708641062 Nov 08, 2017 (151)
67 ILLUMINA ss2711120753 Nov 08, 2017 (151)
68 GNOMAD ss2858850613 Nov 08, 2017 (151)
69 SWEGEN ss3001995934 Nov 08, 2017 (151)
70 ILLUMINA ss3022776952 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3026140318 Nov 08, 2017 (151)
72 CSHL ss3347832098 Nov 08, 2017 (151)
73 ILLUMINA ss3625937196 Oct 12, 2018 (152)
74 ILLUMINA ss3629908397 Oct 12, 2018 (152)
75 ILLUMINA ss3632561499 Oct 12, 2018 (152)
76 ILLUMINA ss3633477084 Oct 12, 2018 (152)
77 ILLUMINA ss3634202687 Oct 12, 2018 (152)
78 ILLUMINA ss3635140346 Oct 12, 2018 (152)
79 ILLUMINA ss3635882120 Oct 12, 2018 (152)
80 ILLUMINA ss3636874851 Oct 12, 2018 (152)
81 ILLUMINA ss3637635163 Oct 12, 2018 (152)
82 ILLUMINA ss3638722186 Oct 12, 2018 (152)
83 ILLUMINA ss3639362448 Oct 12, 2018 (152)
84 ILLUMINA ss3639709994 Oct 12, 2018 (152)
85 ILLUMINA ss3640847638 Oct 12, 2018 (152)
86 ILLUMINA ss3641218967 Oct 12, 2018 (152)
87 ILLUMINA ss3641516510 Oct 12, 2018 (152)
88 ILLUMINA ss3643656145 Oct 12, 2018 (152)
89 ILLUMINA ss3644953146 Oct 12, 2018 (152)
90 URBANLAB ss3648746836 Oct 12, 2018 (152)
91 ILLUMINA ss3653311973 Oct 12, 2018 (152)
92 EGCUT_WGS ss3669753927 Jul 13, 2019 (153)
93 EVA_DECODE ss3720646348 Jul 13, 2019 (153)
94 ILLUMINA ss3726479714 Jul 13, 2019 (153)
95 ACPOP ss3735050459 Jul 13, 2019 (153)
96 ILLUMINA ss3744296038 Jul 13, 2019 (153)
97 ILLUMINA ss3745440344 Jul 13, 2019 (153)
98 EVA ss3767131497 Jul 13, 2019 (153)
99 PAGE_CC ss3771397067 Jul 13, 2019 (153)
100 ILLUMINA ss3772933089 Jul 13, 2019 (153)
101 PACBIO ss3785950112 Jul 13, 2019 (153)
102 PACBIO ss3791230075 Jul 13, 2019 (153)
103 PACBIO ss3796110213 Jul 13, 2019 (153)
104 KHV_HUMAN_GENOMES ss3810302612 Jul 13, 2019 (153)
105 EVA ss3830807417 Apr 26, 2020 (154)
106 EVA ss3838902584 Apr 26, 2020 (154)
107 EVA ss3844358873 Apr 26, 2020 (154)
108 HGDP ss3847890066 Apr 26, 2020 (154)
109 SGDP_PRJ ss3868350713 Apr 26, 2020 (154)
110 KRGDB ss3915691656 Apr 26, 2020 (154)
111 EVA ss3984594788 Apr 26, 2021 (155)
112 EVA ss3985320145 Apr 26, 2021 (155)
113 EVA ss4017357836 Apr 26, 2021 (155)
114 TOPMED ss4762961603 Apr 26, 2021 (155)
115 TOMMO_GENOMICS ss5185479765 Apr 26, 2021 (155)
116 1000G_HIGH_COVERAGE ss5274658317 Oct 13, 2022 (156)
117 EVA ss5315277095 Oct 13, 2022 (156)
118 EVA ss5376637464 Oct 13, 2022 (156)
119 HUGCELL_USP ss5471554158 Oct 13, 2022 (156)
120 EVA ss5509128134 Oct 13, 2022 (156)
121 1000G_HIGH_COVERAGE ss5563777003 Oct 13, 2022 (156)
122 SANFORD_IMAGENETICS ss5643942384 Oct 13, 2022 (156)
123 TOMMO_GENOMICS ss5726441723 Oct 13, 2022 (156)
124 EVA ss5799736242 Oct 13, 2022 (156)
125 YY_MCH ss5809072661 Oct 13, 2022 (156)
126 EVA ss5823493725 Oct 13, 2022 (156)
127 EVA ss5848152942 Oct 13, 2022 (156)
128 EVA ss5856087229 Oct 13, 2022 (156)
129 EVA ss5860793242 Oct 13, 2022 (156)
130 EVA ss5973137446 Oct 13, 2022 (156)
131 1000Genomes NC_000007.13 - 125453254 Oct 12, 2018 (152)
132 1000Genomes_30x NC_000007.14 - 125813200 Oct 13, 2022 (156)
133 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 125453254 Oct 12, 2018 (152)
134 Chileans NC_000007.13 - 125453254 Apr 26, 2020 (154)
135 Genome-wide autozygosity in Daghestan NC_000007.12 - 125240490 Apr 26, 2020 (154)
136 Genetic variation in the Estonian population NC_000007.13 - 125453254 Oct 12, 2018 (152)
137 The Danish reference pan genome NC_000007.13 - 125453254 Apr 26, 2020 (154)
138 gnomAD - Genomes NC_000007.14 - 125813200 Apr 26, 2021 (155)
139 Genome of the Netherlands Release 5 NC_000007.13 - 125453254 Apr 26, 2020 (154)
140 HGDP-CEPH-db Supplement 1 NC_000007.12 - 125240490 Apr 26, 2020 (154)
141 HapMap NC_000007.14 - 125813200 Apr 26, 2020 (154)
142 KOREAN population from KRGDB NC_000007.13 - 125453254 Apr 26, 2020 (154)
143 Northern Sweden NC_000007.13 - 125453254 Jul 13, 2019 (153)
144 The PAGE Study NC_000007.14 - 125813200 Jul 13, 2019 (153)
145 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 125453254 Apr 26, 2021 (155)
146 CNV burdens in cranial meningiomas NC_000007.13 - 125453254 Apr 26, 2021 (155)
147 Qatari NC_000007.13 - 125453254 Apr 26, 2020 (154)
148 SGDP_PRJ NC_000007.13 - 125453254 Apr 26, 2020 (154)
149 Siberian NC_000007.13 - 125453254 Apr 26, 2020 (154)
150 8.3KJPN NC_000007.13 - 125453254 Apr 26, 2021 (155)
151 14KJPN NC_000007.14 - 125813200 Oct 13, 2022 (156)
152 TopMed NC_000007.14 - 125813200 Apr 26, 2021 (155)
153 UK 10K study - Twins NC_000007.13 - 125453254 Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000007.13 - 125453254 Jul 13, 2019 (153)
155 ALFA NC_000007.14 - 125813200 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)
rs17570081 Oct 08, 2004 (123)
rs58720577 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639362448, ss3639709994 NC_000007.11:125047204:G:A NC_000007.14:125813199:G:A (self)
479443, 567958, ss66258441, ss76403551, ss112510007, ss162689887, ss173485831, ss208283724, ss279520362, ss285713760, ss293960881, ss481021020, ss825522434, ss1397505412, ss1594361272, ss1712985496, ss3643656145, ss3847890066 NC_000007.12:125240489:G:A NC_000007.14:125813199:G:A (self)
39085558, 21746228, 419159, 15492175, 8556508, 9704039, 22869050, 8335324, 546072, 144217, 10073919, 20367693, 5440023, 43449072, 21746228, 4844516, ss223318018, ss234157049, ss241073076, ss481042021, ss482028669, ss485305521, ss537264713, ss560288986, ss654696589, ss778916381, ss783098589, ss784055873, ss832357138, ss832999635, ss834377775, ss984772515, ss1074963852, ss1327045188, ss1431271472, ss1582391570, ss1619166995, ss1662161028, ss1752662493, ss1928031989, ss1946219997, ss1959049137, ss1970811118, ss2024702360, ss2152923669, ss2634657048, ss2708641062, ss2711120753, ss2858850613, ss3001995934, ss3022776952, ss3347832098, ss3625937196, ss3629908397, ss3632561499, ss3633477084, ss3634202687, ss3635140346, ss3635882120, ss3636874851, ss3637635163, ss3638722186, ss3640847638, ss3641218967, ss3641516510, ss3644953146, ss3653311973, ss3669753927, ss3735050459, ss3744296038, ss3745440344, ss3767131497, ss3772933089, ss3785950112, ss3791230075, ss3796110213, ss3830807417, ss3838902584, ss3868350713, ss3915691656, ss3984594788, ss3985320145, ss4017357836, ss5185479765, ss5315277095, ss5376637464, ss5509128134, ss5643942384, ss5799736242, ss5823493725, ss5848152942, ss5973137446 NC_000007.13:125453253:G:A NC_000007.14:125813199:G:A (self)
51302938, 275990740, 3487332, 618536, 60278827, 600339162, 22633875, ss2297675392, ss3026140318, ss3648746836, ss3720646348, ss3726479714, ss3771397067, ss3810302612, ss3844358873, ss4762961603, ss5274658317, ss5471554158, ss5563777003, ss5726441723, ss5809072661, ss5856087229, ss5860793242 NC_000007.14:125813199:G:A NC_000007.14:125813199:G:A (self)
ss6516533, ss24473079, ss44822903, ss66651831, ss67365931, ss67750685, ss70819574, ss71400893, ss75617254, ss79191916, ss84331594, ss98333878, ss104466386, ss122367944, ss154311528, ss155460374, ss159488226, ss160703587, ss171884097, ss173792278 NT_007933.15:63486096:G:A NC_000007.14:125813199:G:A (self)
22869050, ss3915691656 NC_000007.13:125453253:G:C NC_000007.14:125813199:G:C (self)
22633875 NC_000007.14:125813199:G:C NC_000007.14:125813199:G: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 rs4728029

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