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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.

rs10071742

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:74175852 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.243319 (64404/264690, TOPMED)
T=0.297228 (48743/163992, ALFA)
T=0.26145 (7388/28258, 14KJPN) (+ 18 more)
T=0.25996 (4357/16760, 8.3KJPN)
T=0.2021 (1294/6404, 1000G_30x)
T=0.2067 (1035/5008, 1000G)
T=0.3063 (1372/4480, Estonian)
T=0.3415 (1316/3854, ALSPAC)
T=0.3360 (1246/3708, TWINSUK)
T=0.2820 (824/2922, KOREAN)
T=0.1909 (360/1886, HapMap)
T=0.2773 (508/1832, Korea1K)
T=0.2799 (318/1136, Daghestan)
T=0.337 (336/998, GoNL)
T=0.312 (195/626, Chileans)
T=0.302 (181/600, NorthernSweden)
T=0.208 (45/216, Qatari)
G=0.426 (92/216, SGDP_PRJ)
T=0.196 (42/214, Vietnamese)
T=0.42 (17/40, GENOME_DK)
G=0.43 (13/30, 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 163992 G=0.702772 A=0.000000, T=0.297228
European Sub 141824 G=0.686203 A=0.000000, T=0.313797
African Sub 9502 G=0.9050 A=0.0000, T=0.0950
African Others Sub 318 G=0.940 A=0.000, T=0.060
African American Sub 9184 G=0.9037 A=0.0000, T=0.0963
Asian Sub 672 G=0.774 A=0.000, T=0.226
East Asian Sub 518 G=0.757 A=0.000, T=0.243
Other Asian Sub 154 G=0.831 A=0.000, T=0.169
Latin American 1 Sub 784 G=0.801 A=0.000, T=0.199
Latin American 2 Sub 4074 G=0.7388 A=0.0000, T=0.2612
South Asian Sub 152 G=0.803 A=0.000, T=0.197
Other Sub 6984 G=0.7231 A=0.0000, T=0.2769


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=0.756681 T=0.243319
Allele Frequency Aggregator Total Global 163992 G=0.702772 A=0.000000, T=0.297228
Allele Frequency Aggregator European Sub 141824 G=0.686203 A=0.000000, T=0.313797
Allele Frequency Aggregator African Sub 9502 G=0.9050 A=0.0000, T=0.0950
Allele Frequency Aggregator Other Sub 6984 G=0.7231 A=0.0000, T=0.2769
Allele Frequency Aggregator Latin American 2 Sub 4074 G=0.7388 A=0.0000, T=0.2612
Allele Frequency Aggregator Latin American 1 Sub 784 G=0.801 A=0.000, T=0.199
Allele Frequency Aggregator Asian Sub 672 G=0.774 A=0.000, T=0.226
Allele Frequency Aggregator South Asian Sub 152 G=0.803 A=0.000, T=0.197
14KJPN JAPANESE Study-wide 28258 G=0.73855 T=0.26145
8.3KJPN JAPANESE Study-wide 16760 G=0.74004 T=0.25996
1000Genomes_30x Global Study-wide 6404 G=0.7979 T=0.2021
1000Genomes_30x African Sub 1786 G=0.9328 T=0.0672
1000Genomes_30x Europe Sub 1266 G=0.6880 T=0.3120
1000Genomes_30x South Asian Sub 1202 G=0.7604 T=0.2396
1000Genomes_30x East Asian Sub 1170 G=0.7880 T=0.2120
1000Genomes_30x American Sub 980 G=0.752 T=0.248
1000Genomes Global Study-wide 5008 G=0.7933 T=0.2067
1000Genomes African Sub 1322 G=0.9327 T=0.0673
1000Genomes East Asian Sub 1008 G=0.7867 T=0.2133
1000Genomes Europe Sub 1006 G=0.6809 T=0.3191
1000Genomes South Asian Sub 978 G=0.755 T=0.245
1000Genomes American Sub 694 G=0.755 T=0.245
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6937 T=0.3063
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6585 T=0.3415
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6640 T=0.3360
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.7180 C=0.0000, T=0.2820
HapMap Global Study-wide 1886 G=0.8091 T=0.1909
HapMap American Sub 766 G=0.765 T=0.235
HapMap African Sub 690 G=0.900 T=0.100
HapMap Asian Sub 254 G=0.752 T=0.248
HapMap Europe Sub 176 G=0.727 T=0.273
Korean Genome Project KOREAN Study-wide 1832 G=0.7227 T=0.2773
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.7201 T=0.2799
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.694 T=0.306
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.722 T=0.278
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.795 T=0.205
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.694 T=0.306
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.81 T=0.19
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.75 T=0.25
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.663 T=0.337
Chileans Chilean Study-wide 626 G=0.688 T=0.312
Northern Sweden ACPOP Study-wide 600 G=0.698 T=0.302
Qatari Global Study-wide 216 G=0.792 T=0.208
SGDP_PRJ Global Study-wide 216 G=0.426 T=0.574
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.804 T=0.196
The Danish reference pan genome Danish Study-wide 40 G=0.57 T=0.42
Siberian Global Study-wide 30 G=0.43 T=0.57
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 5 NC_000005.10:g.74175852G>A
GRCh38.p14 chr 5 NC_000005.10:g.74175852G>C
GRCh38.p14 chr 5 NC_000005.10:g.74175852G>T
GRCh37.p13 chr 5 NC_000005.9:g.73471677G>A
GRCh37.p13 chr 5 NC_000005.9:g.73471677G>C
GRCh37.p13 chr 5 NC_000005.9:g.73471677G>T
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 T
GRCh38.p14 chr 5 NC_000005.10:g.74175852= NC_000005.10:g.74175852G>A NC_000005.10:g.74175852G>C NC_000005.10:g.74175852G>T
GRCh37.p13 chr 5 NC_000005.9:g.73471677= NC_000005.9:g.73471677G>A NC_000005.9:g.73471677G>C NC_000005.9:g.73471677G>T
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#.

101 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13924355 Dec 05, 2003 (119)
2 SC_SNP ss16304172 Feb 27, 2004 (120)
3 PERLEGEN ss24672581 Sep 20, 2004 (123)
4 AFFY ss66162840 Nov 29, 2006 (127)
5 PERLEGEN ss68938569 May 16, 2007 (127)
6 ILLUMINA ss75083100 Dec 06, 2007 (129)
7 AFFY ss76207496 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss82651650 Dec 15, 2007 (130)
9 HUMANGENOME_JCVI ss98734504 Feb 05, 2009 (130)
10 1000GENOMES ss109128481 Jan 23, 2009 (130)
11 ENSEMBL ss143076747 Dec 01, 2009 (131)
12 GMI ss155589265 Dec 01, 2009 (131)
13 ILLUMINA ss159859263 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162359543 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss166686836 Jul 04, 2010 (132)
16 ILLUMINA ss169616258 Jul 04, 2010 (132)
17 1000GENOMES ss221742619 Jul 14, 2010 (132)
18 1000GENOMES ss232992079 Jul 14, 2010 (132)
19 1000GENOMES ss240154083 Jul 15, 2010 (132)
20 BL ss253538977 May 09, 2011 (134)
21 GMI ss278336638 May 04, 2012 (137)
22 GMI ss285197518 Apr 25, 2013 (138)
23 PJP ss293380391 May 09, 2011 (134)
24 ILLUMINA ss479176746 May 04, 2012 (137)
25 ILLUMINA ss479178808 May 04, 2012 (137)
26 ILLUMINA ss479503531 Sep 08, 2015 (146)
27 ILLUMINA ss484389456 May 04, 2012 (137)
28 ILLUMINA ss536572541 Sep 08, 2015 (146)
29 TISHKOFF ss558466887 Apr 25, 2013 (138)
30 SSMP ss652336789 Apr 25, 2013 (138)
31 ILLUMINA ss778721826 Sep 08, 2015 (146)
32 ILLUMINA ss782641060 Sep 08, 2015 (146)
33 ILLUMINA ss783610499 Sep 08, 2015 (146)
34 ILLUMINA ss831891252 Sep 08, 2015 (146)
35 ILLUMINA ss834181225 Sep 08, 2015 (146)
36 EVA-GONL ss981691549 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1072722832 Aug 21, 2014 (142)
38 1000GENOMES ss1315577002 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397416341 Sep 08, 2015 (146)
40 DDI ss1430380501 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1581186513 Apr 01, 2015 (144)
42 EVA_DECODE ss1591210962 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1613142248 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1656136281 Apr 01, 2015 (144)
45 EVA_SVP ss1712772774 Apr 01, 2015 (144)
46 ILLUMINA ss1752583787 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1924948719 Feb 12, 2016 (147)
48 GENOMED ss1970115694 Jul 19, 2016 (147)
49 JJLAB ss2023079591 Sep 14, 2016 (149)
50 USC_VALOUEV ss2151234827 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2274694667 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2626036214 Nov 08, 2017 (151)
53 ILLUMINA ss2634293115 Nov 08, 2017 (151)
54 GRF ss2706782535 Nov 08, 2017 (151)
55 ILLUMINA ss2711040642 Nov 08, 2017 (151)
56 GNOMAD ss2826026566 Nov 08, 2017 (151)
57 SWEGEN ss2997133062 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3025323999 Nov 08, 2017 (151)
59 CSHL ss3346442185 Nov 08, 2017 (151)
60 ILLUMINA ss3629259567 Oct 12, 2018 (152)
61 ILLUMINA ss3632219576 Oct 12, 2018 (152)
62 ILLUMINA ss3633377864 Oct 12, 2018 (152)
63 ILLUMINA ss3634098588 Oct 12, 2018 (152)
64 ILLUMINA ss3635006512 Oct 12, 2018 (152)
65 ILLUMINA ss3635780554 Oct 12, 2018 (152)
66 ILLUMINA ss3636718612 Oct 12, 2018 (152)
67 ILLUMINA ss3637533172 Oct 12, 2018 (152)
68 ILLUMINA ss3638559925 Oct 12, 2018 (152)
69 ILLUMINA ss3640713805 Oct 12, 2018 (152)
70 ILLUMINA ss3643505542 Oct 12, 2018 (152)
71 URBANLAB ss3648089820 Oct 12, 2018 (152)
72 EGCUT_WGS ss3665010339 Jul 13, 2019 (153)
73 EVA_DECODE ss3714916627 Jul 13, 2019 (153)
74 ACPOP ss3732459765 Jul 13, 2019 (153)
75 ILLUMINA ss3745306730 Jul 13, 2019 (153)
76 EVA ss3763574214 Jul 13, 2019 (153)
77 ILLUMINA ss3772800874 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3806741738 Jul 13, 2019 (153)
79 EVA ss3829303601 Apr 26, 2020 (154)
80 EVA ss3838125661 Apr 26, 2020 (154)
81 EVA ss3843566463 Apr 26, 2020 (154)
82 SGDP_PRJ ss3862116099 Apr 26, 2020 (154)
83 KRGDB ss3908679532 Apr 26, 2020 (154)
84 KOGIC ss3956905357 Apr 26, 2020 (154)
85 EVA ss4017212561 Apr 26, 2021 (155)
86 TOPMED ss4664193925 Apr 26, 2021 (155)
87 TOMMO_GENOMICS ss5172304002 Apr 26, 2021 (155)
88 1000G_HIGH_COVERAGE ss5264399699 Oct 13, 2022 (156)
89 EVA ss5315059618 Oct 13, 2022 (156)
90 EVA ss5358345647 Oct 13, 2022 (156)
91 HUGCELL_USP ss5462531062 Oct 13, 2022 (156)
92 1000G_HIGH_COVERAGE ss5548273244 Oct 13, 2022 (156)
93 SANFORD_IMAGENETICS ss5638048890 Oct 13, 2022 (156)
94 TOMMO_GENOMICS ss5708860860 Oct 13, 2022 (156)
95 EVA ss5799651782 Oct 13, 2022 (156)
96 YY_MCH ss5806423738 Oct 13, 2022 (156)
97 EVA ss5835090349 Oct 13, 2022 (156)
98 EVA ss5854860788 Oct 13, 2022 (156)
99 EVA ss5894666362 Oct 13, 2022 (156)
100 EVA ss5966478168 Oct 13, 2022 (156)
101 EVA ss5980300076 Oct 13, 2022 (156)
102 1000Genomes NC_000005.9 - 73471677 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000005.10 - 74175852 Oct 13, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 73471677 Oct 12, 2018 (152)
105 Chileans NC_000005.9 - 73471677 Apr 26, 2020 (154)
106 Genome-wide autozygosity in Daghestan NC_000005.8 - 73507433 Apr 26, 2020 (154)
107 Genetic variation in the Estonian population NC_000005.9 - 73471677 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000005.9 - 73471677 Apr 26, 2020 (154)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 192245029 (NC_000005.10:74175851:G:A 1/140080)
Row 192245030 (NC_000005.10:74175851:G:T 35247/140042)

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 192245029 (NC_000005.10:74175851:G:A 1/140080)
Row 192245030 (NC_000005.10:74175851:G:T 35247/140042)

- Apr 26, 2021 (155)
111 Genome of the Netherlands Release 5 NC_000005.9 - 73471677 Apr 26, 2020 (154)
112 HapMap NC_000005.10 - 74175852 Apr 26, 2020 (154)
113 KOREAN population from KRGDB NC_000005.9 - 73471677 Apr 26, 2020 (154)
114 Korean Genome Project NC_000005.10 - 74175852 Apr 26, 2020 (154)
115 Northern Sweden NC_000005.9 - 73471677 Jul 13, 2019 (153)
116 Qatari NC_000005.9 - 73471677 Apr 26, 2020 (154)
117 SGDP_PRJ NC_000005.9 - 73471677 Apr 26, 2020 (154)
118 Siberian NC_000005.9 - 73471677 Apr 26, 2020 (154)
119 8.3KJPN NC_000005.9 - 73471677 Apr 26, 2021 (155)
120 14KJPN NC_000005.10 - 74175852 Oct 13, 2022 (156)
121 TopMed NC_000005.10 - 74175852 Apr 26, 2021 (155)
122 UK 10K study - Twins NC_000005.9 - 73471677 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000005.9 - 73471677 Jul 13, 2019 (153)
124 ALFA NC_000005.10 - 74175852 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)
rs17637260 Oct 08, 2004 (123)
rs61027190 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7887822642 NC_000005.10:74175851:G:A NC_000005.10:74175851:G:A (self)
15856926, ss3908679532 NC_000005.9:73471676:G:C NC_000005.10:74175851:G:C (self)
391341, ss109128481, ss162359543, ss166686836, ss253538977, ss278336638, ss285197518, ss293380391, ss479176746, ss1397416341, ss1591210962, ss1712772774, ss3643505542 NC_000005.8:73507432:G:T NC_000005.10:74175851:G:T (self)
27194581, 15119292, 349009, 10748587, 7351452, 6721371, 15856926, 5744630, 6990649, 14133079, 3751181, 30273309, 15119292, 3356100, ss221742619, ss232992079, ss240154083, ss479178808, ss479503531, ss484389456, ss536572541, ss558466887, ss652336789, ss778721826, ss782641060, ss783610499, ss831891252, ss834181225, ss981691549, ss1072722832, ss1315577002, ss1430380501, ss1581186513, ss1613142248, ss1656136281, ss1752583787, ss1924948719, ss1970115694, ss2023079591, ss2151234827, ss2626036214, ss2634293115, ss2706782535, ss2711040642, ss2826026566, ss2997133062, ss3346442185, ss3629259567, ss3632219576, ss3633377864, ss3634098588, ss3635006512, ss3635780554, ss3636718612, ss3637533172, ss3638559925, ss3640713805, ss3665010339, ss3732459765, ss3745306730, ss3763574214, ss3772800874, ss3829303601, ss3838125661, ss3862116099, ss3908679532, ss4017212561, ss5172304002, ss5315059618, ss5358345647, ss5638048890, ss5799651782, ss5835090349, ss5966478168, ss5980300076 NC_000005.9:73471676:G:T NC_000005.10:74175851:G:T (self)
35799179, 2890051, 13283358, 42697964, 501571482, 7887822642, ss2274694667, ss3025323999, ss3648089820, ss3714916627, ss3806741738, ss3843566463, ss3956905357, ss4664193925, ss5264399699, ss5462531062, ss5548273244, ss5708860860, ss5806423738, ss5854860788, ss5894666362 NC_000005.10:74175851:G:T NC_000005.10:74175851:G:T (self)
ss13924355, ss16304172 NT_006713.13:2863808:G:T NC_000005.10:74175851:G:T (self)
ss24672581, ss66162840, ss68938569, ss75083100, ss76207496, ss82651650, ss98734504, ss143076747, ss155589265, ss159859263, ss169616258 NT_006713.15:24066035:G:T NC_000005.10:74175851:G:T (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 rs10071742

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