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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.

rs10035095

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:76464349 (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>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.150630 (21115/140178, GnomAD)
G=0.17007 (13888/81662, ALFA)
G=0.20791 (5875/28258, 14KJPN) (+ 17 more)
G=0.20859 (3496/16760, 8.3KJPN)
G=0.1483 (950/6404, 1000G_30x)
G=0.1504 (753/5008, 1000G)
G=0.1317 (590/4480, Estonian)
G=0.2042 (787/3854, ALSPAC)
G=0.2066 (766/3708, TWINSUK)
G=0.2628 (770/2930, KOREAN)
G=0.2718 (498/1832, Korea1K)
G=0.200 (200/998, GoNL)
G=0.163 (98/600, NorthernSweden)
G=0.130 (40/308, HapMap)
G=0.167 (36/216, Qatari)
G=0.231 (49/212, Vietnamese)
A=0.444 (71/160, SGDP_PRJ)
G=0.23 (9/40, GENOME_DK)
A=0.50 (11/22, Siberian)
G=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IQGAP2 : 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 81662 A=0.82993 C=0.00000, G=0.17007
European Sub 68372 A=0.81523 C=0.00000, G=0.18477
African Sub 4242 A=0.9710 C=0.0000, G=0.0290
African Others Sub 164 A=0.988 C=0.000, G=0.012
African American Sub 4078 A=0.9703 C=0.0000, G=0.0297
Asian Sub 114 A=0.930 C=0.000, G=0.070
East Asian Sub 96 A=0.92 C=0.00, G=0.08
Other Asian Sub 18 A=1.00 C=0.00, G=0.00
Latin American 1 Sub 496 A=0.921 C=0.000, G=0.079
Latin American 2 Sub 4502 A=0.9023 C=0.0000, G=0.0977
South Asian Sub 124 A=0.927 C=0.000, G=0.073
Other Sub 3812 A=0.8332 C=0.0000, G=0.1668


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
gnomAD - Genomes Global Study-wide 140178 A=0.849370 G=0.150630
gnomAD - Genomes European Sub 75906 A=0.81257 G=0.18743
gnomAD - Genomes African Sub 42016 A=0.92986 G=0.07014
gnomAD - Genomes American Sub 13650 A=0.86220 G=0.13780
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.7307 G=0.2693
gnomAD - Genomes East Asian Sub 3128 A=0.7347 G=0.2653
gnomAD - Genomes Other Sub 2154 A=0.8445 G=0.1555
Allele Frequency Aggregator Total Global 81662 A=0.82993 C=0.00000, G=0.17007
Allele Frequency Aggregator European Sub 68372 A=0.81523 C=0.00000, G=0.18477
Allele Frequency Aggregator Latin American 2 Sub 4502 A=0.9023 C=0.0000, G=0.0977
Allele Frequency Aggregator African Sub 4242 A=0.9710 C=0.0000, G=0.0290
Allele Frequency Aggregator Other Sub 3812 A=0.8332 C=0.0000, G=0.1668
Allele Frequency Aggregator Latin American 1 Sub 496 A=0.921 C=0.000, G=0.079
Allele Frequency Aggregator South Asian Sub 124 A=0.927 C=0.000, G=0.073
Allele Frequency Aggregator Asian Sub 114 A=0.930 C=0.000, G=0.070
14KJPN JAPANESE Study-wide 28258 A=0.79209 G=0.20791
8.3KJPN JAPANESE Study-wide 16760 A=0.79141 G=0.20859
1000Genomes_30x Global Study-wide 6404 A=0.8517 G=0.1483
1000Genomes_30x African Sub 1786 A=0.9462 G=0.0538
1000Genomes_30x Europe Sub 1266 A=0.8073 G=0.1927
1000Genomes_30x South Asian Sub 1202 A=0.8361 G=0.1639
1000Genomes_30x East Asian Sub 1170 A=0.7547 G=0.2453
1000Genomes_30x American Sub 980 A=0.871 G=0.129
1000Genomes Global Study-wide 5008 A=0.8496 G=0.1504
1000Genomes African Sub 1322 A=0.9433 G=0.0567
1000Genomes East Asian Sub 1008 A=0.7569 G=0.2431
1000Genomes Europe Sub 1006 A=0.8082 G=0.1918
1000Genomes South Asian Sub 978 A=0.847 G=0.153
1000Genomes American Sub 694 A=0.870 G=0.130
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8683 G=0.1317
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7958 G=0.2042
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7934 G=0.2066
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7372 G=0.2628
Korean Genome Project KOREAN Study-wide 1832 A=0.7282 G=0.2718
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.800 G=0.200
Northern Sweden ACPOP Study-wide 600 A=0.837 G=0.163
HapMap Global Study-wide 308 A=0.870 G=0.130
HapMap American Sub 118 A=0.822 G=0.178
HapMap African Sub 114 A=0.974 G=0.026
HapMap Asian Sub 76 A=0.79 G=0.21
Qatari Global Study-wide 216 A=0.833 G=0.167
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.769 G=0.231
SGDP_PRJ Global Study-wide 160 A=0.444 G=0.556
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 22 A=0.50 G=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 5 NC_000005.10:g.76464349A>C
GRCh38.p14 chr 5 NC_000005.10:g.76464349A>G
GRCh37.p13 chr 5 NC_000005.9:g.75760174A>C
GRCh37.p13 chr 5 NC_000005.9:g.75760174A>G
IQGAP2 RefSeqGene NG_053128.1:g.66095A>C
IQGAP2 RefSeqGene NG_053128.1:g.66095A>G
Gene: IQGAP2, IQ motif containing GTPase activating protein 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IQGAP2 transcript variant 1 NM_006633.5:c.146+2680A>C N/A Intron Variant
IQGAP2 transcript variant 2 NM_001285460.2:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant 3 NM_001285461.2:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant 4 NM_001285462.2:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant X3 XM_005248410.4:c.65+2680A…

XM_005248410.4:c.65+2680A>C

 		N/A Intron Variant
IQGAP2 transcript variant X6 XM_017008960.2:c.146+2680…

XM_017008960.2:c.146+2680A>C

 		N/A Intron Variant
IQGAP2 transcript variant X1 XM_047416641.1:c.221+2680…

XM_047416641.1:c.221+2680A>C

 		N/A Intron Variant
IQGAP2 transcript variant X8 XM_005248414.3:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant X7 XM_011543108.3:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant X2 XM_024454336.2:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant X4 XM_047416642.1:c. N/A Genic Upstream Transcript Variant
IQGAP2 transcript variant X5 XM_047416643.1:c. N/A Genic Upstream 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= C G
GRCh38.p14 chr 5 NC_000005.10:g.76464349= NC_000005.10:g.76464349A>C NC_000005.10:g.76464349A>G
GRCh37.p13 chr 5 NC_000005.9:g.75760174= NC_000005.9:g.75760174A>C NC_000005.9:g.75760174A>G
IQGAP2 RefSeqGene NG_053128.1:g.66095= NG_053128.1:g.66095A>C NG_053128.1:g.66095A>G
IQGAP2 transcript NM_006633.2:c.146+2680= NM_006633.2:c.146+2680A>C NM_006633.2:c.146+2680A>G
IQGAP2 transcript variant 1 NM_006633.5:c.146+2680= NM_006633.5:c.146+2680A>C NM_006633.5:c.146+2680A>G
IQGAP2 transcript variant X1 XM_005248409.1:c.116+2680= XM_005248409.1:c.116+2680A>C XM_005248409.1:c.116+2680A>G
IQGAP2 transcript variant X1 XM_005248410.1:c.65+2680= XM_005248410.1:c.65+2680A>C XM_005248410.1:c.65+2680A>G
IQGAP2 transcript variant X3 XM_005248410.4:c.65+2680= XM_005248410.4:c.65+2680A>C XM_005248410.4:c.65+2680A>G
IQGAP2 transcript variant X3 XM_005248411.1:c.65+2680= XM_005248411.1:c.65+2680A>C XM_005248411.1:c.65+2680A>G
IQGAP2 transcript variant X5 XM_005248413.1:c.146+2680= XM_005248413.1:c.146+2680A>C XM_005248413.1:c.146+2680A>G
IQGAP2 transcript variant X6 XM_017008960.2:c.146+2680= XM_017008960.2:c.146+2680A>C XM_017008960.2:c.146+2680A>G
IQGAP2 transcript variant X1 XM_047416641.1:c.221+2680= XM_047416641.1:c.221+2680A>C XM_047416641.1:c.221+2680A>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#.

82 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13882292 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17047636 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss20228030 Feb 27, 2004 (120)
4 SSAHASNP ss22218004 Apr 05, 2004 (121)
5 ABI ss44616042 Mar 14, 2006 (126)
6 HUMANGENOME_JCVI ss98735512 Feb 03, 2009 (130)
7 ENSEMBL ss142812402 Dec 01, 2009 (131)
8 ILLUMINA ss159854292 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss162373024 Jul 04, 2010 (132)
10 BUSHMAN ss200410821 Jul 04, 2010 (132)
11 BCM-HGSC-SUB ss207052711 Jul 04, 2010 (132)
12 1000GENOMES ss221751842 Jul 14, 2010 (132)
13 1000GENOMES ss232998297 Jul 14, 2010 (132)
14 1000GENOMES ss240159171 Jul 15, 2010 (132)
15 BL ss253550417 May 09, 2011 (134)
16 GMI ss278342807 May 04, 2012 (137)
17 PJP ss293383058 May 09, 2011 (134)
18 ILLUMINA ss479165539 May 04, 2012 (137)
19 ILLUMINA ss479483726 Sep 08, 2015 (146)
20 TISHKOFF ss558477566 Apr 25, 2013 (138)
21 SSMP ss652349011 Apr 25, 2013 (138)
22 ILLUMINA ss831887935 Sep 08, 2015 (146)
23 EVA-GONL ss981708801 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1072736122 Aug 21, 2014 (142)
25 1000GENOMES ss1315641514 Aug 21, 2014 (142)
26 DDI ss1430385526 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1581192965 Apr 01, 2015 (144)
28 EVA_DECODE ss1591228391 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1613176510 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1656170543 Apr 01, 2015 (144)
31 ILLUMINA ss1752584643 Sep 08, 2015 (146)
32 HAMMER_LAB ss1803699103 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1924965548 Feb 12, 2016 (147)
34 JJLAB ss2023088492 Sep 14, 2016 (149)
35 USC_VALOUEV ss2151243514 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2274825704 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2626040544 Nov 08, 2017 (151)
38 ILLUMINA ss2634295248 Nov 08, 2017 (151)
39 GRF ss2706793099 Nov 08, 2017 (151)
40 GNOMAD ss2826210079 Nov 08, 2017 (151)
41 SWEGEN ss2997159150 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3025328592 Nov 08, 2017 (151)
43 CSHL ss3346449710 Nov 08, 2017 (151)
44 ILLUMINA ss3633378459 Oct 12, 2018 (152)
45 ILLUMINA ss3634099202 Oct 12, 2018 (152)
46 ILLUMINA ss3635007287 Oct 12, 2018 (152)
47 ILLUMINA ss3635781156 Oct 12, 2018 (152)
48 ILLUMINA ss3636719458 Oct 12, 2018 (152)
49 ILLUMINA ss3637533780 Oct 12, 2018 (152)
50 ILLUMINA ss3640714580 Oct 12, 2018 (152)
51 ILLUMINA ss3641181116 Oct 12, 2018 (152)
52 ILLUMINA ss3641478038 Oct 12, 2018 (152)
53 URBANLAB ss3648092494 Oct 12, 2018 (152)
54 EGCUT_WGS ss3665037656 Jul 13, 2019 (153)
55 EVA_DECODE ss3714947375 Jul 13, 2019 (153)
56 ACPOP ss3732473874 Jul 13, 2019 (153)
57 ILLUMINA ss3745307502 Jul 13, 2019 (153)
58 EVA ss3763594221 Jul 13, 2019 (153)
59 ILLUMINA ss3772801646 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3806761954 Jul 13, 2019 (153)
61 EVA ss3829311724 Apr 26, 2020 (154)
62 EVA ss3838129080 Apr 26, 2020 (154)
63 EVA ss3843569930 Apr 26, 2020 (154)
64 SGDP_PRJ ss3862150720 Apr 26, 2020 (154)
65 KRGDB ss3908718256 Apr 26, 2020 (154)
66 KOGIC ss3956937225 Apr 26, 2020 (154)
67 TOPMED ss4664745501 Apr 26, 2021 (155)
68 TOPMED ss4664745502 Apr 26, 2021 (155)
69 TOMMO_GENOMICS ss5172376642 Apr 26, 2021 (155)
70 1000G_HIGH_COVERAGE ss5264457783 Oct 17, 2022 (156)
71 EVA ss5315060885 Oct 17, 2022 (156)
72 HUGCELL_USP ss5462581078 Oct 17, 2022 (156)
73 EVA ss5508071755 Oct 17, 2022 (156)
74 1000G_HIGH_COVERAGE ss5548358721 Oct 17, 2022 (156)
75 SANFORD_IMAGENETICS ss5638081688 Oct 17, 2022 (156)
76 TOMMO_GENOMICS ss5708953856 Oct 17, 2022 (156)
77 EVA ss5799652296 Oct 17, 2022 (156)
78 YY_MCH ss5806438523 Oct 17, 2022 (156)
79 EVA ss5835112787 Oct 17, 2022 (156)
80 EVA ss5854868159 Oct 17, 2022 (156)
81 EVA ss5894731280 Oct 17, 2022 (156)
82 EVA ss5966512604 Oct 17, 2022 (156)
83 1000Genomes NC_000005.9 - 75760174 Oct 12, 2018 (152)
84 1000Genomes_30x NC_000005.10 - 76464349 Oct 17, 2022 (156)
85 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 75760174 Oct 12, 2018 (152)
86 Genetic variation in the Estonian population NC_000005.9 - 75760174 Oct 12, 2018 (152)
87 The Danish reference pan genome NC_000005.9 - 75760174 Apr 26, 2020 (154)
88 gnomAD - Genomes NC_000005.10 - 76464349 Apr 26, 2021 (155)
89 Genome of the Netherlands Release 5 NC_000005.9 - 75760174 Apr 26, 2020 (154)
90 HapMap NC_000005.10 - 76464349 Apr 26, 2020 (154)
91 KOREAN population from KRGDB NC_000005.9 - 75760174 Apr 26, 2020 (154)
92 Korean Genome Project NC_000005.10 - 76464349 Apr 26, 2020 (154)
93 Northern Sweden NC_000005.9 - 75760174 Jul 13, 2019 (153)
94 Qatari NC_000005.9 - 75760174 Apr 26, 2020 (154)
95 SGDP_PRJ NC_000005.9 - 75760174 Apr 26, 2020 (154)
96 Siberian NC_000005.9 - 75760174 Apr 26, 2020 (154)
97 8.3KJPN NC_000005.9 - 75760174 Apr 26, 2021 (155)
98 14KJPN NC_000005.10 - 76464349 Oct 17, 2022 (156)
99 TopMed

Submission ignored due to conflicting rows:
Row 502123058 (NC_000005.10:76464348:A:C 2/264690)
Row 502123059 (NC_000005.10:76464348:A:G 41004/264690)

- Apr 26, 2021 (155)
100 TopMed

Submission ignored due to conflicting rows:
Row 502123058 (NC_000005.10:76464348:A:C 2/264690)
Row 502123059 (NC_000005.10:76464348:A:G 41004/264690)

- Apr 26, 2021 (155)
101 UK 10K study - Twins NC_000005.9 - 75760174 Oct 12, 2018 (152)
102 A Vietnamese Genetic Variation Database NC_000005.9 - 75760174 Jul 13, 2019 (153)
103 ALFA NC_000005.10 - 76464349 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3212278626, ss4664745501 NC_000005.10:76464348:A:C NC_000005.10:76464348:A:C (self)
ss162373024, ss200410821, ss207052711, ss253550417, ss278342807, ss293383058, ss1591228391 NC_000005.8:75795929:A:G NC_000005.10:76464348:A:G (self)
27261418, 15156760, 10775904, 7357904, 6738196, 15895650, 5758739, 7007478, 14167700, 3759868, 30345949, 15156760, 3364825, ss221751842, ss232998297, ss240159171, ss479165539, ss479483726, ss558477566, ss652349011, ss831887935, ss981708801, ss1072736122, ss1315641514, ss1430385526, ss1581192965, ss1613176510, ss1656170543, ss1752584643, ss1803699103, ss1924965548, ss2023088492, ss2151243514, ss2626040544, ss2634295248, ss2706793099, ss2826210079, ss2997159150, ss3346449710, ss3633378459, ss3634099202, ss3635007287, ss3635781156, ss3636719458, ss3637533780, ss3640714580, ss3641181116, ss3641478038, ss3665037656, ss3732473874, ss3745307502, ss3763594221, ss3772801646, ss3829311724, ss3838129080, ss3862150720, ss3908718256, ss5172376642, ss5315060885, ss5508071755, ss5638081688, ss5799652296, ss5835112787, ss5966512604 NC_000005.9:75760173:A:G NC_000005.10:76464348:A:G (self)
35884656, 192706257, 2893368, 13315226, 42790960, 3212278626, ss2274825704, ss3025328592, ss3648092494, ss3714947375, ss3806761954, ss3843569930, ss3956937225, ss4664745502, ss5264457783, ss5462581078, ss5548358721, ss5708953856, ss5806438523, ss5854868159, ss5894731280 NC_000005.10:76464348:A:G NC_000005.10:76464348:A:G (self)
ss13882292, ss17047636, ss20228030, ss22218004 NT_006713.13:5152305:A:G NC_000005.10:76464348:A:G (self)
ss44616042, ss98735512, ss142812402, ss159854292 NT_006713.15:26354532:A:G NC_000005.10:76464348: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 rs10035095

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