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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.

rs10786068

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:93082720 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.286070 (75720/264690, TOPMED)
C=0.291377 (40805/140042, GnomAD)
C=0.28335 (22300/78700, PAGE_STUDY) (+ 16 more)
C=0.30148 (5695/18890, ALFA)
C=0.27667 (4637/16760, 8.3KJPN)
C=0.2472 (1238/5008, 1000G)
C=0.3205 (1436/4480, Estonian)
C=0.3028 (1167/3854, ALSPAC)
C=0.3029 (1123/3708, TWINSUK)
C=0.2493 (730/2928, KOREAN)
C=0.2440 (447/1832, Korea1K)
C=0.271 (270/998, GoNL)
C=0.285 (171/600, NorthernSweden)
C=0.200 (104/520, SGDP_PRJ)
C=0.305 (100/328, HapMap)
C=0.241 (52/216, Qatari)
C=0.190 (40/210, Vietnamese)
C=0.20 (11/54, Siberian)
C=0.35 (14/40, 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 10 NC_000010.11:g.93082720C>G
GRCh37.p13 chr 10 NC_000010.10:g.94842477C>G
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 (New)
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 18890 C=0.30148 G=0.69852
European Sub 14286 C=0.30512 G=0.69488
African Sub 2946 C=0.2828 G=0.7172
African Others Sub 114 C=0.289 G=0.711
African American Sub 2832 C=0.2825 G=0.7175
Asian Sub 112 C=0.152 G=0.848
East Asian Sub 86 C=0.14 G=0.86
Other Asian Sub 26 C=0.19 G=0.81
Latin American 1 Sub 146 C=0.247 G=0.753
Latin American 2 Sub 610 C=0.364 G=0.636
South Asian Sub 98 C=0.21 G=0.79
Other Sub 692 C=0.299 G=0.701


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 C=0.286070 G=0.713930
gnomAD - Genomes Global Study-wide 140042 C=0.291377 G=0.708623
gnomAD - Genomes European Sub 75844 C=0.30481 G=0.69519
gnomAD - Genomes African Sub 41954 C=0.28143 G=0.71857
gnomAD - Genomes American Sub 13640 C=0.29120 G=0.70880
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.2275 G=0.7725
gnomAD - Genomes East Asian Sub 3132 C=0.1782 G=0.8218
gnomAD - Genomes Other Sub 2154 C=0.2762 G=0.7238
The PAGE Study Global Study-wide 78700 C=0.28335 G=0.71665
The PAGE Study AfricanAmerican Sub 32516 C=0.27820 G=0.72180
The PAGE Study Mexican Sub 10810 C=0.33497 G=0.66503
The PAGE Study Asian Sub 8318 C=0.2532 G=0.7468
The PAGE Study PuertoRican Sub 7918 C=0.3050 G=0.6950
The PAGE Study NativeHawaiian Sub 4534 C=0.2131 G=0.7869
The PAGE Study Cuban Sub 4230 C=0.2792 G=0.7208
The PAGE Study Dominican Sub 3826 C=0.2739 G=0.7261
The PAGE Study CentralAmerican Sub 2450 C=0.2878 G=0.7122
The PAGE Study SouthAmerican Sub 1982 C=0.2977 G=0.7023
The PAGE Study NativeAmerican Sub 1260 C=0.3238 G=0.6762
The PAGE Study SouthAsian Sub 856 C=0.250 G=0.750
8.3KJPN JAPANESE Study-wide 16760 C=0.27667 G=0.72333
1000Genomes Global Study-wide 5008 C=0.2472 G=0.7528
1000Genomes African Sub 1322 C=0.2610 G=0.7390
1000Genomes East Asian Sub 1008 C=0.1845 G=0.8155
1000Genomes Europe Sub 1006 C=0.2942 G=0.7058
1000Genomes South Asian Sub 978 C=0.231 G=0.769
1000Genomes American Sub 694 C=0.267 G=0.733
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3205 G=0.6795
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3028 G=0.6972
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3029 G=0.6971
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.2493 G=0.7507
Korean Genome Project KOREAN Study-wide 1832 C=0.2440 G=0.7560
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.271 G=0.729
Northern Sweden ACPOP Study-wide 600 C=0.285 G=0.715
SGDP_PRJ Global Study-wide 520 C=0.200 G=0.800
HapMap Global Study-wide 328 C=0.305 G=0.695
HapMap African Sub 120 C=0.250 G=0.750
HapMap American Sub 120 C=0.333 G=0.667
HapMap Asian Sub 88 C=0.34 G=0.66
Qatari Global Study-wide 216 C=0.241 G=0.759
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.190 G=0.810
Siberian Global Study-wide 54 C=0.20 G=0.80
The Danish reference pan genome Danish Study-wide 40 C=0.35 G=0.65
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 C= G
GRCh38.p13 chr 10 NC_000010.11:g.93082720= NC_000010.11:g.93082720C>G
GRCh37.p13 chr 10 NC_000010.10:g.94842477= NC_000010.10:g.94842477C>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#.

110 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15879432 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss16483236 Feb 27, 2004 (120)
3 SC_SNP ss18637664 Feb 27, 2004 (120)
4 SC_SNP ss18881243 Feb 27, 2004 (120)
5 SSAHASNP ss20703771 Apr 05, 2004 (121)
6 PERLEGEN ss24545839 Sep 20, 2004 (123)
7 ABI ss38634168 Mar 15, 2006 (126)
8 PERLEGEN ss69087768 May 16, 2007 (127)
9 ILLUMINA ss75243144 Dec 07, 2007 (129)
10 HGSV ss77232951 Dec 07, 2007 (129)
11 HGSV ss82205279 Dec 15, 2007 (130)
12 HUMANGENOME_JCVI ss97674573 Feb 06, 2009 (130)
13 KRIBB_YJKIM ss102648491 Feb 06, 2009 (130)
14 BGI ss106694877 Feb 06, 2009 (130)
15 1000GENOMES ss109658490 Jan 24, 2009 (130)
16 1000GENOMES ss113656964 Jan 25, 2009 (130)
17 ILLUMINA-UK ss119270517 Feb 15, 2009 (130)
18 ENSEMBL ss131940340 Dec 01, 2009 (131)
19 GMI ss155390613 Dec 01, 2009 (131)
20 ILLUMINA ss159920349 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss168680177 Jul 04, 2010 (132)
22 ILLUMINA ss170523297 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss170752329 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss174696342 Jul 04, 2010 (132)
25 BUSHMAN ss201870108 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207041712 Jul 04, 2010 (132)
27 1000GENOMES ss224877884 Jul 14, 2010 (132)
28 1000GENOMES ss235287878 Jul 15, 2010 (132)
29 1000GENOMES ss241972248 Jul 15, 2010 (132)
30 ILLUMINA ss244270140 Jul 04, 2010 (132)
31 BL ss254523382 May 09, 2011 (134)
32 GMI ss280727977 May 04, 2012 (137)
33 GMI ss286241621 Apr 25, 2013 (138)
34 PJP ss290897004 May 09, 2011 (134)
35 ILLUMINA ss479347755 May 04, 2012 (137)
36 ILLUMINA ss479350974 May 04, 2012 (137)
37 ILLUMINA ss479747419 Sep 08, 2015 (146)
38 ILLUMINA ss484474117 May 04, 2012 (137)
39 ILLUMINA ss536633967 Sep 08, 2015 (146)
40 TISHKOFF ss562135572 Apr 25, 2013 (138)
41 SSMP ss657171011 Apr 25, 2013 (138)
42 ILLUMINA ss778342325 Aug 21, 2014 (142)
43 ILLUMINA ss782683597 Aug 21, 2014 (142)
44 ILLUMINA ss783652016 Aug 21, 2014 (142)
45 ILLUMINA ss831934432 Apr 01, 2015 (144)
46 ILLUMINA ss833796935 Aug 21, 2014 (142)
47 EVA-GONL ss987791383 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1077206239 Aug 21, 2014 (142)
49 1000GENOMES ss1338576483 Aug 21, 2014 (142)
50 DDI ss1426407440 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1575289959 Apr 01, 2015 (144)
52 EVA_DECODE ss1597464664 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1625170299 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1668164332 Apr 01, 2015 (144)
55 ILLUMINA ss1751987499 Sep 08, 2015 (146)
56 HAMMER_LAB ss1806515751 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1931157806 Feb 12, 2016 (147)
58 ILLUMINA ss1959283808 Feb 12, 2016 (147)
59 GENOMED ss1967197253 Jul 19, 2016 (147)
60 JJLAB ss2026307483 Sep 14, 2016 (149)
61 USC_VALOUEV ss2154583579 Nov 08, 2017 (151)
62 HUMAN_LONGEVITY ss2177052553 Dec 20, 2016 (150)
63 TOPMED ss2340162357 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2627622441 Nov 08, 2017 (151)
65 ILLUMINA ss2632746781 Nov 08, 2017 (151)
66 ILLUMINA ss2635017925 Nov 08, 2017 (151)
67 GRF ss2698835939 Nov 08, 2017 (151)
68 GNOMAD ss2891997744 Nov 08, 2017 (151)
69 AFFY ss2984919520 Nov 08, 2017 (151)
70 AFFY ss2985568098 Nov 08, 2017 (151)
71 SWEGEN ss3006946386 Nov 08, 2017 (151)
72 ILLUMINA ss3021263706 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3026943506 Nov 08, 2017 (151)
74 TOPMED ss3127217947 Nov 08, 2017 (151)
75 CSHL ss3349255974 Nov 08, 2017 (151)
76 ILLUMINA ss3626507070 Oct 12, 2018 (152)
77 ILLUMINA ss3630770144 Oct 12, 2018 (152)
78 ILLUMINA ss3632959826 Oct 12, 2018 (152)
79 ILLUMINA ss3633657453 Oct 12, 2018 (152)
80 ILLUMINA ss3634417064 Oct 12, 2018 (152)
81 ILLUMINA ss3635349739 Oct 12, 2018 (152)
82 ILLUMINA ss3636100849 Oct 12, 2018 (152)
83 ILLUMINA ss3637100443 Oct 12, 2018 (152)
84 ILLUMINA ss3637866494 Oct 12, 2018 (152)
85 ILLUMINA ss3640124405 Oct 12, 2018 (152)
86 ILLUMINA ss3642868618 Oct 12, 2018 (152)
87 URBANLAB ss3649438442 Oct 12, 2018 (152)
88 ILLUMINA ss3651622080 Oct 12, 2018 (152)
89 ILLUMINA ss3653690217 Oct 12, 2018 (152)
90 EGCUT_WGS ss3674358500 Jul 13, 2019 (153)
91 EVA_DECODE ss3690437851 Jul 13, 2019 (153)
92 ILLUMINA ss3725178423 Jul 13, 2019 (153)
93 ACPOP ss3737574858 Jul 13, 2019 (153)
94 ILLUMINA ss3744718038 Jul 13, 2019 (153)
95 EVA ss3748454173 Jul 13, 2019 (153)
96 PAGE_CC ss3771574839 Jul 13, 2019 (153)
97 ILLUMINA ss3772218401 Jul 13, 2019 (153)
98 PACBIO ss3786753427 Jul 13, 2019 (153)
99 PACBIO ss3791921337 Jul 13, 2019 (153)
100 PACBIO ss3796803464 Jul 13, 2019 (153)
101 KHV_HUMAN_GENOMES ss3813820305 Jul 13, 2019 (153)
102 EVA ss3832270178 Apr 26, 2020 (154)
103 EVA ss3839676233 Apr 26, 2020 (154)
104 EVA ss3845149824 Apr 26, 2020 (154)
105 SGDP_PRJ ss3874803898 Apr 26, 2020 (154)
106 KRGDB ss3922929004 Apr 26, 2020 (154)
107 KOGIC ss3968435620 Apr 26, 2020 (154)
108 EVA ss4017500846 Apr 26, 2021 (155)
109 TOPMED ss4862225868 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5198917540 Apr 26, 2021 (155)
111 1000Genomes NC_000010.10 - 94842477 Oct 12, 2018 (152)
112 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 94842477 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000010.10 - 94842477 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000010.10 - 94842477 Apr 26, 2020 (154)
115 gnomAD - Genomes NC_000010.11 - 93082720 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000010.10 - 94842477 Apr 26, 2020 (154)
117 HapMap NC_000010.11 - 93082720 Apr 26, 2020 (154)
118 KOREAN population from KRGDB NC_000010.10 - 94842477 Apr 26, 2020 (154)
119 Korean Genome Project NC_000010.11 - 93082720 Apr 26, 2020 (154)
120 Northern Sweden NC_000010.10 - 94842477 Jul 13, 2019 (153)
121 The PAGE Study NC_000010.11 - 93082720 Jul 13, 2019 (153)
122 Qatari NC_000010.10 - 94842477 Apr 26, 2020 (154)
123 SGDP_PRJ NC_000010.10 - 94842477 Apr 26, 2020 (154)
124 Siberian NC_000010.10 - 94842477 Apr 26, 2020 (154)
125 8.3KJPN NC_000010.10 - 94842477 Apr 26, 2021 (155)
126 TopMed NC_000010.11 - 93082720 Apr 26, 2021 (155)
127 UK 10K study - Twins NC_000010.10 - 94842477 Oct 12, 2018 (152)
128 A Vietnamese Genetic Variation Database NC_000010.10 - 94842477 Jul 13, 2019 (153)
129 ALFA NC_000010.11 - 93082720 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)
rs17465801 Oct 08, 2004 (123)
rs60790253 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77232951, ss82205279 NC_000010.8:94832466:C:G NC_000010.11:93082719:C:G (self)
ss109658490, ss113656964, ss119270517, ss168680177, ss170752329, ss174696342, ss201870108, ss207041712, ss254523382, ss280727977, ss286241621, ss290897004, ss479347755, ss1597464664, ss2635017925, ss3642868618 NC_000010.9:94832466:C:G NC_000010.11:93082719:C:G (self)
51006185, 28317158, 20096748, 2277971, 12626518, 30106398, 10859723, 13199736, 26820878, 7099933, 56886847, 28317158, 6288389, ss224877884, ss235287878, ss241972248, ss479350974, ss479747419, ss484474117, ss536633967, ss562135572, ss657171011, ss778342325, ss782683597, ss783652016, ss831934432, ss833796935, ss987791383, ss1077206239, ss1338576483, ss1426407440, ss1575289959, ss1625170299, ss1668164332, ss1751987499, ss1806515751, ss1931157806, ss1959283808, ss1967197253, ss2026307483, ss2154583579, ss2340162357, ss2627622441, ss2632746781, ss2698835939, ss2891997744, ss2984919520, ss2985568098, ss3006946386, ss3021263706, ss3349255974, ss3626507070, ss3630770144, ss3632959826, ss3633657453, ss3634417064, ss3635349739, ss3636100849, ss3637100443, ss3637866494, ss3640124405, ss3651622080, ss3653690217, ss3674358500, ss3737574858, ss3744718038, ss3748454173, ss3772218401, ss3786753427, ss3791921337, ss3796803464, ss3832270178, ss3839676233, ss3874803898, ss3922929004, ss4017500846, ss5198917540 NC_000010.10:94842476:C:G NC_000010.11:93082719:C:G (self)
360400320, 465728, 24813621, 796308, 48891936, 77771523, 6082731331, ss2177052553, ss3026943506, ss3127217947, ss3649438442, ss3690437851, ss3725178423, ss3771574839, ss3813820305, ss3845149824, ss3968435620, ss4862225868 NC_000010.11:93082719:C:G NC_000010.11:93082719:C:G (self)
ss15879432, ss16483236, ss18637664, ss18881243, ss20703771 NT_030059.11:13591002:C:G NC_000010.11:93082719:C:G (self)
ss24545839, ss38634168, ss69087768, ss75243144, ss97674573, ss102648491, ss106694877, ss131940340, ss155390613, ss159920349, ss170523297, ss244270140 NT_030059.13:45646940:C:G NC_000010.11:93082719:C: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 rs10786068

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