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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs10038470

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:38767710 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.254131 (67266/264690, TOPMED)
A=0.261602 (36642/140068, GnomAD)
A=0.09951 (2812/28258, 14KJPN) (+ 19 more)
A=0.27783 (6154/22150, ALFA)
A=0.09791 (1641/16760, 8.3KJPN)
A=0.2028 (1299/6404, 1000G_30x)
A=0.2007 (1005/5008, 1000G)
A=0.2714 (1216/4480, Estonian)
A=0.3041 (1172/3854, ALSPAC)
A=0.3158 (1171/3708, TWINSUK)
A=0.1464 (429/2930, KOREAN)
A=0.2054 (428/2084, HGDP_Stanford)
A=0.2270 (429/1890, HapMap)
A=0.1146 (210/1832, Korea1K)
A=0.314 (313/998, GoNL)
A=0.290 (174/600, NorthernSweden)
A=0.161 (86/534, SGDP_PRJ)
A=0.343 (74/216, Qatari)
A=0.120 (26/216, Vietnamese)
A=0.19 (9/48, Siberian)
A=0.23 (9/40, GENOME_DK)
A=0.38 (6/16, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OSMR-DT : Intron Variant
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 22150 A=0.27783 G=0.72217
European Sub 15966 A=0.30170 G=0.69830
African Sub 4112 A=0.2057 G=0.7943
African Others Sub 148 A=0.176 G=0.824
African American Sub 3964 A=0.2069 G=0.7931
Asian Sub 124 A=0.169 G=0.831
East Asian Sub 96 A=0.20 G=0.80
Other Asian Sub 28 A=0.07 G=0.93
Latin American 1 Sub 168 A=0.286 G=0.714
Latin American 2 Sub 670 A=0.184 G=0.816
South Asian Sub 98 A=0.22 G=0.78
Other Sub 1012 A=0.2737 G=0.7263


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=0.254131 G=0.745869
gnomAD - Genomes Global Study-wide 140068 A=0.261602 G=0.738398
gnomAD - Genomes European Sub 75860 A=0.29918 G=0.70082
gnomAD - Genomes African Sub 41962 A=0.21236 G=0.78764
gnomAD - Genomes American Sub 13644 A=0.22992 G=0.77008
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.2732 G=0.7268
gnomAD - Genomes East Asian Sub 3132 A=0.1347 G=0.8653
gnomAD - Genomes Other Sub 2150 A=0.2647 G=0.7353
14KJPN JAPANESE Study-wide 28258 A=0.09951 G=0.90049
Allele Frequency Aggregator Total Global 22150 A=0.27783 G=0.72217
Allele Frequency Aggregator European Sub 15966 A=0.30170 G=0.69830
Allele Frequency Aggregator African Sub 4112 A=0.2057 G=0.7943
Allele Frequency Aggregator Other Sub 1012 A=0.2737 G=0.7263
Allele Frequency Aggregator Latin American 2 Sub 670 A=0.184 G=0.816
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.286 G=0.714
Allele Frequency Aggregator Asian Sub 124 A=0.169 G=0.831
Allele Frequency Aggregator South Asian Sub 98 A=0.22 G=0.78
8.3KJPN JAPANESE Study-wide 16760 A=0.09791 G=0.90209
1000Genomes_30x Global Study-wide 6404 A=0.2028 G=0.7972
1000Genomes_30x African Sub 1786 A=0.1853 G=0.8147
1000Genomes_30x Europe Sub 1266 A=0.3223 G=0.6777
1000Genomes_30x South Asian Sub 1202 A=0.2063 G=0.7937
1000Genomes_30x East Asian Sub 1170 A=0.1137 G=0.8863
1000Genomes_30x American Sub 980 A=0.183 G=0.817
1000Genomes Global Study-wide 5008 A=0.2007 G=0.7993
1000Genomes African Sub 1322 A=0.1861 G=0.8139
1000Genomes East Asian Sub 1008 A=0.1131 G=0.8869
1000Genomes Europe Sub 1006 A=0.3181 G=0.6819
1000Genomes South Asian Sub 978 A=0.203 G=0.797
1000Genomes American Sub 694 A=0.182 G=0.818
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2714 G=0.7286
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3041 G=0.6959
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3158 G=0.6842
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1464 G=0.8536
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.2054 G=0.7946
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.151 G=0.849
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.200 G=0.800
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.291 G=0.709
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.338 G=0.662
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.174 G=0.826
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.097 G=0.903
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.01 G=0.99
HapMap Global Study-wide 1890 A=0.2270 G=0.7730
HapMap American Sub 768 A=0.224 G=0.776
HapMap African Sub 692 A=0.264 G=0.736
HapMap Asian Sub 254 A=0.087 G=0.913
HapMap Europe Sub 176 A=0.295 G=0.705
Korean Genome Project KOREAN Study-wide 1832 A=0.1146 G=0.8854
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.314 G=0.686
Northern Sweden ACPOP Study-wide 600 A=0.290 G=0.710
SGDP_PRJ Global Study-wide 534 A=0.161 G=0.839
Qatari Global Study-wide 216 A=0.343 G=0.657
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.120 G=0.880
Siberian Global Study-wide 48 A=0.19 G=0.81
The Danish reference pan genome Danish Study-wide 40 A=0.23 G=0.78
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 16 A=0.38 G=0.62
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.38767710A>G
GRCh37.p13 chr 5 NC_000005.9:g.38767812A>G
Gene: OSMR-DT, OSMR divergent transcript (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OSMR-DT transcript NR_109951.1:n. N/A Intron Variant
OSMR-DT transcript variant 2 NR_171676.1:n. N/A Genic Downstream Transcript Variant
OSMR-DT transcript variant 3 NR_171677.1:n. N/A Genic Downstream 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
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= G
GRCh38.p14 chr 5 NC_000005.10:g.38767710= NC_000005.10:g.38767710A>G
GRCh37.p13 chr 5 NC_000005.9:g.38767812= NC_000005.9:g.38767812A>G
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, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13886088 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss20238267 Feb 27, 2004 (120)
3 SSAHASNP ss22309833 Apr 05, 2004 (121)
4 ABI ss44654093 Mar 14, 2006 (126)
5 ILLUMINA ss66865787 Dec 01, 2006 (127)
6 ILLUMINA ss66937130 Dec 01, 2006 (127)
7 ILLUMINA ss68075987 Dec 12, 2006 (127)
8 ILLUMINA ss70461182 May 24, 2008 (130)
9 ILLUMINA ss70981953 May 17, 2007 (127)
10 ILLUMINA ss75790736 Dec 07, 2007 (129)
11 HGSV ss78320074 Dec 07, 2007 (129)
12 KRIBB_YJKIM ss84894142 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss93067373 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss98714507 Feb 04, 2009 (130)
15 BGI ss105920144 Feb 04, 2009 (130)
16 1000GENOMES ss108973428 Jan 23, 2009 (130)
17 1000GENOMES ss111723218 Jan 25, 2009 (130)
18 ILLUMINA-UK ss116577440 Feb 14, 2009 (130)
19 ENSEMBL ss143055476 Dec 01, 2009 (131)
20 GMI ss155325719 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162189262 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss164752617 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss166439250 Jul 04, 2010 (132)
24 ILLUMINA ss169553818 Jul 04, 2010 (132)
25 BUSHMAN ss200138394 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss206706188 Jul 04, 2010 (132)
27 ILLUMINA ss209082926 Jul 04, 2010 (132)
28 1000GENOMES ss221634042 Jul 14, 2010 (132)
29 1000GENOMES ss232911678 Jul 14, 2010 (132)
30 1000GENOMES ss240092829 Jul 15, 2010 (132)
31 BL ss253386584 May 09, 2011 (134)
32 GMI ss278253145 May 04, 2012 (137)
33 GMI ss285159818 Apr 25, 2013 (138)
34 PJP ss293571600 May 09, 2011 (134)
35 ILLUMINA ss536568388 Sep 08, 2015 (146)
36 TISHKOFF ss558336942 Apr 25, 2013 (138)
37 SSMP ss652191932 Apr 25, 2013 (138)
38 EVA-GONL ss981465525 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1072557246 Aug 21, 2014 (142)
40 1000GENOMES ss1314716085 Aug 21, 2014 (142)
41 DDI ss1430313807 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1581100847 Apr 01, 2015 (144)
43 EVA_DECODE ss1590988268 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1612693787 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1655687820 Apr 01, 2015 (144)
46 EVA_SVP ss1712758429 Apr 01, 2015 (144)
47 HAMMER_LAB ss1803389555 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1924728159 Feb 12, 2016 (147)
49 GENOMED ss1970068255 Jul 19, 2016 (147)
50 JJLAB ss2022966925 Sep 14, 2016 (149)
51 USC_VALOUEV ss2151117834 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2273017336 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2625984015 Nov 08, 2017 (151)
54 GRF ss2706655914 Nov 08, 2017 (151)
55 GNOMAD ss2823466788 Nov 08, 2017 (151)
56 SWEGEN ss2996769023 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3025268913 Nov 08, 2017 (151)
58 CSHL ss3346344233 Nov 08, 2017 (151)
59 ILLUMINA ss3629218695 Oct 12, 2018 (152)
60 ILLUMINA ss3638549099 Oct 12, 2018 (152)
61 ILLUMINA ss3639277316 Oct 12, 2018 (152)
62 ILLUMINA ss3639936367 Oct 12, 2018 (152)
63 ILLUMINA ss3643495434 Oct 12, 2018 (152)
64 ILLUMINA ss3643981971 Oct 12, 2018 (152)
65 URBANLAB ss3648036176 Oct 12, 2018 (152)
66 EGCUT_WGS ss3664663155 Jul 13, 2019 (153)
67 EVA_DECODE ss3714504381 Jul 13, 2019 (153)
68 ACPOP ss3732273714 Jul 13, 2019 (153)
69 EVA ss3763317016 Jul 13, 2019 (153)
70 PACBIO ss3785087136 Jul 13, 2019 (153)
71 PACBIO ss3790497244 Jul 13, 2019 (153)
72 PACBIO ss3795373691 Jul 13, 2019 (153)
73 KHV_HUMAN_GENOMES ss3806492985 Jul 13, 2019 (153)
74 EVA ss3829202301 Apr 26, 2020 (154)
75 EVA ss3838070474 Apr 26, 2020 (154)
76 EVA ss3843509832 Apr 26, 2020 (154)
77 HGDP ss3847788082 Apr 26, 2020 (154)
78 SGDP_PRJ ss3861654203 Apr 26, 2020 (154)
79 KRGDB ss3908131669 Apr 26, 2020 (154)
80 KOGIC ss3956465201 Apr 26, 2020 (154)
81 EVA ss3985136388 Apr 26, 2021 (155)
82 EVA ss4017202849 Apr 26, 2021 (155)
83 TOPMED ss4656575581 Apr 26, 2021 (155)
84 TOMMO_GENOMICS ss5171300262 Apr 26, 2021 (155)
85 1000G_HIGH_COVERAGE ss5263603306 Oct 13, 2022 (156)
86 EVA ss5356955590 Oct 13, 2022 (156)
87 HUGCELL_USP ss5461865685 Oct 13, 2022 (156)
88 EVA ss5507986419 Oct 13, 2022 (156)
89 1000G_HIGH_COVERAGE ss5547043981 Oct 13, 2022 (156)
90 SANFORD_IMAGENETICS ss5637611764 Oct 13, 2022 (156)
91 TOMMO_GENOMICS ss5707225729 Oct 13, 2022 (156)
92 YY_MCH ss5806203576 Oct 13, 2022 (156)
93 EVA ss5834802353 Oct 13, 2022 (156)
94 EVA ss5854775352 Oct 13, 2022 (156)
95 EVA ss5893805637 Oct 13, 2022 (156)
96 EVA ss5966029226 Oct 13, 2022 (156)
97 1000Genomes NC_000005.9 - 38767812 Oct 12, 2018 (152)
98 1000Genomes_30x NC_000005.10 - 38767710 Oct 13, 2022 (156)
99 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 38767812 Oct 12, 2018 (152)
100 Genetic variation in the Estonian population NC_000005.9 - 38767812 Oct 12, 2018 (152)
101 The Danish reference pan genome NC_000005.9 - 38767812 Apr 26, 2020 (154)
102 gnomAD - Genomes NC_000005.10 - 38767710 Apr 26, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000005.9 - 38767812 Apr 26, 2020 (154)
104 HGDP-CEPH-db Supplement 1 NC_000005.8 - 38803569 Apr 26, 2020 (154)
105 HapMap NC_000005.10 - 38767710 Apr 26, 2020 (154)
106 KOREAN population from KRGDB NC_000005.9 - 38767812 Apr 26, 2020 (154)
107 Korean Genome Project NC_000005.10 - 38767710 Apr 26, 2020 (154)
108 Northern Sweden NC_000005.9 - 38767812 Jul 13, 2019 (153)
109 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 38767812 Apr 26, 2021 (155)
110 Qatari NC_000005.9 - 38767812 Apr 26, 2020 (154)
111 SGDP_PRJ NC_000005.9 - 38767812 Apr 26, 2020 (154)
112 Siberian NC_000005.9 - 38767812 Apr 26, 2020 (154)
113 8.3KJPN NC_000005.9 - 38767812 Apr 26, 2021 (155)
114 14KJPN NC_000005.10 - 38767710 Oct 13, 2022 (156)
115 TopMed NC_000005.10 - 38767710 Apr 26, 2021 (155)
116 UK 10K study - Twins NC_000005.9 - 38767812 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000005.9 - 38767812 Jul 13, 2019 (153)
118 ALFA NC_000005.10 - 38767710 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)
rs58274237 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
465974, ss78320074, ss93067373, ss108973428, ss111723218, ss116577440, ss162189262, ss164752617, ss166439250, ss200138394, ss206706188, ss253386584, ss278253145, ss285159818, ss293571600, ss1590988268, ss1712758429, ss3639277316, ss3639936367, ss3643495434, ss3643981971, ss3847788082 NC_000005.8:38803568:A:G NC_000005.10:38767709:A:G (self)
26303108, 14627962, 10401403, 7265786, 6500968, 15309063, 5558579, 362315, 6770089, 13671183, 3634188, 29269569, 14627962, 3252140, ss221634042, ss232911678, ss240092829, ss536568388, ss558336942, ss652191932, ss981465525, ss1072557246, ss1314716085, ss1430313807, ss1581100847, ss1612693787, ss1655687820, ss1803389555, ss1924728159, ss1970068255, ss2022966925, ss2151117834, ss2625984015, ss2706655914, ss2823466788, ss2996769023, ss3346344233, ss3629218695, ss3638549099, ss3664663155, ss3732273714, ss3763317016, ss3785087136, ss3790497244, ss3795373691, ss3829202301, ss3838070474, ss3861654203, ss3908131669, ss3985136388, ss4017202849, ss5171300262, ss5356955590, ss5507986419, ss5637611764, ss5834802353, ss5966029226 NC_000005.9:38767811:A:G NC_000005.10:38767709:A:G (self)
34569916, 185808953, 2850265, 12843202, 41062833, 493953138, 5980268351, ss2273017336, ss3025268913, ss3648036176, ss3714504381, ss3806492985, ss3843509832, ss3956465201, ss4656575581, ss5263603306, ss5461865685, ss5547043981, ss5707225729, ss5806203576, ss5854775352, ss5893805637 NC_000005.10:38767709:A:G NC_000005.10:38767709:A:G (self)
ss13886088, ss20238267, ss22309833 NT_006576.14:21219917:A:G NC_000005.10:38767709:A:G (self)
ss44654093, ss66865787, ss66937130, ss68075987, ss70461182, ss70981953, ss75790736, ss84894142, ss98714507, ss105920144, ss143055476, ss155325719, ss169553818, ss209082926 NT_006576.16:38757811:A:G NC_000005.10:38767709:A:G (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 rs10038470

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