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.

rs4707922

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:71572229 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.355695 (94149/264690, TOPMED)
C=0.459087 (115376/251316, ALFA)
C=0.373016 (52114/139710, GnomAD) (+ 20 more)
C=0.27296 (21476/78678, PAGE_STUDY)
C=0.32777 (9262/28258, 14KJPN)
C=0.32399 (5430/16760, 8.3KJPN)
C=0.2993 (1917/6404, 1000G_30x)
C=0.3039 (1522/5008, 1000G)
T=0.4806 (2153/4480, Estonian)
C=0.4886 (1883/3854, ALSPAC)
C=0.4746 (1760/3708, TWINSUK)
C=0.3154 (924/2930, KOREAN)
C=0.2688 (507/1886, HapMap)
C=0.3242 (594/1832, Korea1K)
C=0.468 (467/998, GoNL)
C=0.286 (222/776, PRJEB37584)
C=0.425 (266/626, Chileans)
C=0.462 (277/600, NorthernSweden)
T=0.386 (108/280, SGDP_PRJ)
C=0.241 (52/216, Qatari)
T=0.32 (16/50, Siberian)
T=0.50 (20/40, GENOME_DK)
C=0.50 (20/40, GENOME_DK)
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 256352 T=0.542520 C=0.457480
European Sub 223668 T=0.522431 C=0.477569
African Sub 8638 T=0.8553 C=0.1447
African Others Sub 328 T=0.921 C=0.079
African American Sub 8310 T=0.8527 C=0.1473
Asian Sub 3890 T=0.6928 C=0.3072
East Asian Sub 3126 T=0.6910 C=0.3090
Other Asian Sub 764 T=0.700 C=0.300
Latin American 1 Sub 1166 T=0.6158 C=0.3842
Latin American 2 Sub 8676 T=0.5983 C=0.4017
South Asian Sub 376 T=0.654 C=0.346
Other Sub 9938 T=0.6024 C=0.3976


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=0.644305 C=0.355695
Allele Frequency Aggregator Total Global 251316 T=0.540913 C=0.459087
Allele Frequency Aggregator European Sub 220574 T=0.522432 C=0.477568
Allele Frequency Aggregator Other Sub 9138 T=0.5989 C=0.4011
Allele Frequency Aggregator Latin American 2 Sub 8676 T=0.5983 C=0.4017
Allele Frequency Aggregator African Sub 7496 T=0.8514 C=0.1486
Allele Frequency Aggregator Asian Sub 3890 T=0.6928 C=0.3072
Allele Frequency Aggregator Latin American 1 Sub 1166 T=0.6158 C=0.3842
Allele Frequency Aggregator South Asian Sub 376 T=0.654 C=0.346
gnomAD - Genomes Global Study-wide 139710 T=0.626984 C=0.373016
gnomAD - Genomes European Sub 75672 T=0.51369 C=0.48631
gnomAD - Genomes African Sub 41862 T=0.85094 C=0.14906
gnomAD - Genomes American Sub 13588 T=0.59685 C=0.40315
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.4515 C=0.5485
gnomAD - Genomes East Asian Sub 3124 T=0.6940 C=0.3060
gnomAD - Genomes Other Sub 2144 T=0.6180 C=0.3820
The PAGE Study Global Study-wide 78678 T=0.72704 C=0.27296
The PAGE Study AfricanAmerican Sub 32506 T=0.84452 C=0.15548
The PAGE Study Mexican Sub 10800 T=0.60713 C=0.39287
The PAGE Study Asian Sub 8318 T=0.6790 C=0.3210
The PAGE Study PuertoRican Sub 7916 T=0.6386 C=0.3614
The PAGE Study NativeHawaiian Sub 4534 T=0.7342 C=0.2658
The PAGE Study Cuban Sub 4230 T=0.5719 C=0.4281
The PAGE Study Dominican Sub 3826 T=0.6824 C=0.3176
The PAGE Study CentralAmerican Sub 2450 T=0.6784 C=0.3216
The PAGE Study SouthAmerican Sub 1982 T=0.5787 C=0.4213
The PAGE Study NativeAmerican Sub 1260 T=0.5992 C=0.4008
The PAGE Study SouthAsian Sub 856 T=0.662 C=0.338
14KJPN JAPANESE Study-wide 28258 T=0.67223 C=0.32777
8.3KJPN JAPANESE Study-wide 16760 T=0.67601 C=0.32399
1000Genomes_30x Global Study-wide 6404 T=0.7007 C=0.2993
1000Genomes_30x African Sub 1786 T=0.9216 C=0.0784
1000Genomes_30x Europe Sub 1266 T=0.5197 C=0.4803
1000Genomes_30x South Asian Sub 1202 T=0.6947 C=0.3053
1000Genomes_30x East Asian Sub 1170 T=0.6718 C=0.3282
1000Genomes_30x American Sub 980 T=0.573 C=0.427
1000Genomes Global Study-wide 5008 T=0.6961 C=0.3039
1000Genomes African Sub 1322 T=0.9130 C=0.0870
1000Genomes East Asian Sub 1008 T=0.6746 C=0.3254
1000Genomes Europe Sub 1006 T=0.5089 C=0.4911
1000Genomes South Asian Sub 978 T=0.701 C=0.299
1000Genomes American Sub 694 T=0.578 C=0.422
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4806 C=0.5194
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5114 C=0.4886
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5254 C=0.4746
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6846 C=0.3154
HapMap Global Study-wide 1886 T=0.7312 C=0.2688
HapMap American Sub 766 T=0.645 C=0.355
HapMap African Sub 692 T=0.893 C=0.107
HapMap Asian Sub 252 T=0.687 C=0.313
HapMap Europe Sub 176 T=0.534 C=0.466
Korean Genome Project KOREAN Study-wide 1832 T=0.6758 C=0.3242
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.532 C=0.468
CNV burdens in cranial meningiomas Global Study-wide 776 T=0.714 C=0.286
CNV burdens in cranial meningiomas CRM Sub 776 T=0.714 C=0.286
Chileans Chilean Study-wide 626 T=0.575 C=0.425
Northern Sweden ACPOP Study-wide 600 T=0.538 C=0.462
SGDP_PRJ Global Study-wide 280 T=0.386 C=0.614
Qatari Global Study-wide 216 T=0.759 C=0.241
Siberian Global Study-wide 50 T=0.32 C=0.68
The Danish reference pan genome Danish Study-wide 40 T=0.50 C=0.50
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 6 NC_000006.12:g.71572229T>C
GRCh37.p13 chr 6 NC_000006.11:g.72281932T>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 T= C
GRCh38.p14 chr 6 NC_000006.12:g.71572229= NC_000006.12:g.71572229T>C
GRCh37.p13 chr 6 NC_000006.11:g.72281932= NC_000006.11:g.72281932T>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#.

106 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6486534 Feb 20, 2003 (111)
2 SC_SNP ss13053142 Dec 05, 2003 (119)
3 PERLEGEN ss24013371 Sep 20, 2004 (123)
4 AFFY ss66085617 Dec 01, 2006 (127)
5 AFFY ss76032749 Dec 07, 2007 (129)
6 KRIBB_YJKIM ss82096757 Dec 15, 2007 (130)
7 1000GENOMES ss114546188 Jan 25, 2009 (130)
8 ILLUMINA ss160700850 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss162490874 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss163699281 Jul 04, 2010 (132)
11 AFFY ss170651168 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss207312115 Jul 04, 2010 (132)
13 1000GENOMES ss210651474 Jul 14, 2010 (132)
14 1000GENOMES ss222464357 Jul 14, 2010 (132)
15 1000GENOMES ss233529360 Jul 15, 2010 (132)
16 1000GENOMES ss240573608 Jul 15, 2010 (132)
17 GMI ss278861379 May 04, 2012 (137)
18 GMI ss285436328 Apr 25, 2013 (138)
19 ILLUMINA ss410867615 Sep 17, 2011 (135)
20 ILLUMINA ss481012449 May 04, 2012 (137)
21 ILLUMINA ss481033382 May 04, 2012 (137)
22 ILLUMINA ss482017678 Sep 08, 2015 (146)
23 ILLUMINA ss485301198 May 04, 2012 (137)
24 ILLUMINA ss537261681 Sep 08, 2015 (146)
25 TISHKOFF ss559284605 Apr 25, 2013 (138)
26 SSMP ss653241067 Apr 25, 2013 (138)
27 ILLUMINA ss778543351 Sep 08, 2015 (146)
28 ILLUMINA ss783096458 Sep 08, 2015 (146)
29 ILLUMINA ss784053771 Sep 08, 2015 (146)
30 ILLUMINA ss832354989 Sep 08, 2015 (146)
31 ILLUMINA ss834000000 Sep 08, 2015 (146)
32 EVA-GONL ss983079410 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1073720978 Aug 21, 2014 (142)
34 1000GENOMES ss1320682226 Aug 21, 2014 (142)
35 DDI ss1430776435 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1581732383 Apr 01, 2015 (144)
37 EVA_DECODE ss1592621681 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1615854489 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1658848522 Apr 01, 2015 (144)
40 EVA_SVP ss1712872064 Apr 01, 2015 (144)
41 ILLUMINA ss1752646370 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1926335849 Feb 12, 2016 (147)
43 ILLUMINA ss1946182762 Feb 12, 2016 (147)
44 ILLUMINA ss1958923751 Feb 12, 2016 (147)
45 GENOMED ss1970431390 Jul 19, 2016 (147)
46 JJLAB ss2023809978 Sep 14, 2016 (149)
47 USC_VALOUEV ss2152001770 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2285024529 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2626399437 Nov 08, 2017 (151)
50 ILLUMINA ss2634466902 Nov 08, 2017 (151)
51 GRF ss2707610528 Nov 08, 2017 (151)
52 ILLUMINA ss2711081467 Nov 08, 2017 (151)
53 GNOMAD ss2840536977 Nov 08, 2017 (151)
54 SWEGEN ss2999305978 Nov 08, 2017 (151)
55 ILLUMINA ss3022635933 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3025698185 Nov 08, 2017 (151)
57 CSHL ss3347043132 Nov 08, 2017 (151)
58 ILLUMINA ss3625905181 Oct 12, 2018 (152)
59 ILLUMINA ss3629574601 Oct 12, 2018 (152)
60 ILLUMINA ss3632382453 Oct 12, 2018 (152)
61 ILLUMINA ss3633425765 Oct 12, 2018 (152)
62 ILLUMINA ss3634148839 Oct 12, 2018 (152)
63 ILLUMINA ss3635073016 Oct 12, 2018 (152)
64 ILLUMINA ss3635829585 Oct 12, 2018 (152)
65 ILLUMINA ss3636796438 Oct 12, 2018 (152)
66 ILLUMINA ss3637582414 Oct 12, 2018 (152)
67 ILLUMINA ss3640780316 Oct 12, 2018 (152)
68 ILLUMINA ss3644915818 Oct 12, 2018 (152)
69 ILLUMINA ss3653153279 Oct 12, 2018 (152)
70 EGCUT_WGS ss3667175113 Jul 13, 2019 (153)
71 EVA_DECODE ss3717488024 Jul 13, 2019 (153)
72 ILLUMINA ss3726356459 Jul 13, 2019 (153)
73 ACPOP ss3733630672 Jul 13, 2019 (153)
74 ILLUMINA ss3744273382 Jul 13, 2019 (153)
75 ILLUMINA ss3745372951 Jul 13, 2019 (153)
76 EVA ss3765185593 Jul 13, 2019 (153)
77 PAGE_CC ss3771301407 Jul 13, 2019 (153)
78 ILLUMINA ss3772866459 Jul 13, 2019 (153)
79 PACBIO ss3785513075 Jul 13, 2019 (153)
80 PACBIO ss3790858210 Jul 13, 2019 (153)
81 PACBIO ss3795737266 Jul 13, 2019 (153)
82 KHV_HUMAN_GENOMES ss3808334183 Jul 13, 2019 (153)
83 EVA ss3829996935 Apr 26, 2020 (154)
84 EVA ss3838478288 Apr 26, 2020 (154)
85 EVA ss3843925342 Apr 26, 2020 (154)
86 SGDP_PRJ ss3864871486 Apr 26, 2020 (154)
87 KRGDB ss3911738119 Apr 26, 2020 (154)
88 KOGIC ss3959313996 Apr 26, 2020 (154)
89 EVA ss3984571070 Apr 26, 2021 (155)
90 EVA ss4017281292 Apr 26, 2021 (155)
91 TOPMED ss4707824849 Apr 26, 2021 (155)
92 TOMMO_GENOMICS ss5178125338 Apr 26, 2021 (155)
93 1000G_HIGH_COVERAGE ss5268943624 Oct 17, 2022 (156)
94 EVA ss5315164540 Oct 17, 2022 (156)
95 EVA ss5366488705 Oct 17, 2022 (156)
96 HUGCELL_USP ss5466538496 Oct 17, 2022 (156)
97 EVA ss5508553246 Oct 17, 2022 (156)
98 1000G_HIGH_COVERAGE ss5555129822 Oct 17, 2022 (156)
99 SANFORD_IMAGENETICS ss5640684512 Oct 17, 2022 (156)
100 TOMMO_GENOMICS ss5716491590 Oct 17, 2022 (156)
101 EVA ss5799692299 Oct 17, 2022 (156)
102 YY_MCH ss5807603158 Oct 17, 2022 (156)
103 EVA ss5842445777 Oct 17, 2022 (156)
104 EVA ss5855412432 Oct 17, 2022 (156)
105 EVA ss5884356591 Oct 17, 2022 (156)
106 EVA ss5969179058 Oct 17, 2022 (156)
107 1000Genomes NC_000006.11 - 72281932 Oct 12, 2018 (152)
108 1000Genomes_30x NC_000006.12 - 71572229 Oct 17, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 72281932 Oct 12, 2018 (152)
110 Chileans NC_000006.11 - 72281932 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000006.11 - 72281932 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000006.11 - 72281932 Apr 26, 2020 (154)
113 gnomAD - Genomes NC_000006.12 - 71572229 Apr 26, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000006.11 - 72281932 Apr 26, 2020 (154)
115 HapMap NC_000006.12 - 71572229 Apr 26, 2020 (154)
116 KOREAN population from KRGDB NC_000006.11 - 72281932 Apr 26, 2020 (154)
117 Korean Genome Project NC_000006.12 - 71572229 Apr 26, 2020 (154)
118 Northern Sweden NC_000006.11 - 72281932 Jul 13, 2019 (153)
119 The PAGE Study NC_000006.12 - 71572229 Jul 13, 2019 (153)
120 CNV burdens in cranial meningiomas NC_000006.11 - 72281932 Apr 26, 2021 (155)
121 Qatari NC_000006.11 - 72281932 Apr 26, 2020 (154)
122 SGDP_PRJ NC_000006.11 - 72281932 Apr 26, 2020 (154)
123 Siberian NC_000006.11 - 72281932 Apr 26, 2020 (154)
124 8.3KJPN NC_000006.11 - 72281932 Apr 26, 2021 (155)
125 14KJPN NC_000006.12 - 71572229 Oct 17, 2022 (156)
126 TopMed NC_000006.12 - 71572229 Apr 26, 2021 (155)
127 UK 10K study - Twins NC_000006.11 - 72281932 Oct 12, 2018 (152)
128 ALFA NC_000006.12 - 71572229 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)
rs59181069 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66085617, ss76032749, ss114546188, ss162490874, ss163699281, ss170651168, ss207312115, ss210651474, ss278861379, ss285436328, ss481012449, ss1592621681, ss1712872064 NC_000006.10:72338652:T:C NC_000006.12:71572228:T:C (self)
32490455, 18102135, 380843, 12913361, 7897322, 8064771, 18915513, 6915537, 120479, 8377779, 16888466, 4518124, 36094645, 18102135, ss222464357, ss233529360, ss240573608, ss481033382, ss482017678, ss485301198, ss537261681, ss559284605, ss653241067, ss778543351, ss783096458, ss784053771, ss832354989, ss834000000, ss983079410, ss1073720978, ss1320682226, ss1430776435, ss1581732383, ss1615854489, ss1658848522, ss1752646370, ss1926335849, ss1946182762, ss1958923751, ss1970431390, ss2023809978, ss2152001770, ss2626399437, ss2634466902, ss2707610528, ss2711081467, ss2840536977, ss2999305978, ss3022635933, ss3347043132, ss3625905181, ss3629574601, ss3632382453, ss3633425765, ss3634148839, ss3635073016, ss3635829585, ss3636796438, ss3637582414, ss3640780316, ss3644915818, ss3653153279, ss3667175113, ss3733630672, ss3744273382, ss3745372951, ss3765185593, ss3772866459, ss3785513075, ss3790858210, ss3795737266, ss3829996935, ss3838478288, ss3864871486, ss3911738119, ss3984571070, ss4017281292, ss5178125338, ss5315164540, ss5366488705, ss5508553246, ss5640684512, ss5799692299, ss5842445777, ss5969179058 NC_000006.11:72281931:T:C NC_000006.12:71572228:T:C (self)
42655757, 229314085, 3161296, 15691997, 522876, 50328694, 545202407, 14054044268, ss2285024529, ss3025698185, ss3717488024, ss3726356459, ss3771301407, ss3808334183, ss3843925342, ss3959313996, ss4707824849, ss5268943624, ss5466538496, ss5555129822, ss5716491590, ss5807603158, ss5855412432, ss5884356591 NC_000006.12:71572228:T:C NC_000006.12:71572228:T:C (self)
ss13053142 NT_007299.12:10102104:T:C NC_000006.12:71572228:T:C (self)
ss6486534, ss24013371, ss82096757, ss160700850, ss410867615 NT_007299.13:10401765:T:C NC_000006.12:71572228: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 rs4707922

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