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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.

rs10975965

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:7004340 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.109392 (28955/264690, TOPMED)
G=0.096884 (19585/202148, ALFA)
G=0.103252 (14478/140220, GnomAD) (+ 19 more)
G=0.13837 (3910/28258, 14KJPN)
G=0.14057 (2356/16760, 8.3KJPN)
G=0.1110 (711/6404, 1000G_30x)
G=0.1102 (552/5008, 1000G)
G=0.0723 (324/4480, Estonian)
G=0.0828 (319/3854, ALSPAC)
G=0.0858 (318/3708, TWINSUK)
G=0.1441 (421/2922, KOREAN)
G=0.1104 (230/2084, HGDP_Stanford)
G=0.1232 (233/1892, HapMap)
G=0.070 (70/998, GoNL)
G=0.062 (37/600, NorthernSweden)
G=0.130 (28/216, Qatari)
G=0.093 (20/216, Vietnamese)
A=0.464 (52/112, SGDP_PRJ)
G=0.12 (5/40, GENOME_DK)
G=0.10 (2/20, Ancient Sardinia)
A=0.5 (4/8, Siberian)
G=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KDM4C : Intron Variant
Publications
1 citation
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 202148 A=0.903116 G=0.096884
European Sub 174894 A=0.905428 G=0.094572
African Sub 7094 A=0.8771 G=0.1229
African Others Sub 264 A=0.867 G=0.133
African American Sub 6830 A=0.8775 G=0.1225
Asian Sub 702 A=0.905 G=0.095
East Asian Sub 556 A=0.890 G=0.110
Other Asian Sub 146 A=0.959 G=0.041
Latin American 1 Sub 844 A=0.906 G=0.094
Latin American 2 Sub 6892 A=0.8981 G=0.1019
South Asian Sub 5038 A=0.8795 G=0.1205
Other Sub 6684 A=0.8926 G=0.1074


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=0.890608 G=0.109392
Allele Frequency Aggregator Total Global 202148 A=0.903116 G=0.096884
Allele Frequency Aggregator European Sub 174894 A=0.905428 G=0.094572
Allele Frequency Aggregator African Sub 7094 A=0.8771 G=0.1229
Allele Frequency Aggregator Latin American 2 Sub 6892 A=0.8981 G=0.1019
Allele Frequency Aggregator Other Sub 6684 A=0.8926 G=0.1074
Allele Frequency Aggregator South Asian Sub 5038 A=0.8795 G=0.1205
Allele Frequency Aggregator Latin American 1 Sub 844 A=0.906 G=0.094
Allele Frequency Aggregator Asian Sub 702 A=0.905 G=0.095
gnomAD - Genomes Global Study-wide 140220 A=0.896748 G=0.103252
gnomAD - Genomes European Sub 75934 A=0.91208 G=0.08792
gnomAD - Genomes African Sub 42024 A=0.87231 G=0.12769
gnomAD - Genomes American Sub 13662 A=0.90580 G=0.09420
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8257 G=0.1743
gnomAD - Genomes East Asian Sub 3130 A=0.8949 G=0.1051
gnomAD - Genomes Other Sub 2148 A=0.8878 G=0.1122
14KJPN JAPANESE Study-wide 28258 A=0.86163 G=0.13837
8.3KJPN JAPANESE Study-wide 16760 A=0.85943 G=0.14057
1000Genomes_30x Global Study-wide 6404 A=0.8888 G=0.1110, T=0.0002
1000Genomes_30x African Sub 1786 A=0.8628 G=0.1372, T=0.0000
1000Genomes_30x Europe Sub 1266 A=0.9021 G=0.0979, T=0.0000
1000Genomes_30x South Asian Sub 1202 A=0.8985 G=0.1007, T=0.0008
1000Genomes_30x East Asian Sub 1170 A=0.9103 G=0.0897, T=0.0000
1000Genomes_30x American Sub 980 A=0.882 G=0.118, T=0.000
1000Genomes Global Study-wide 5008 A=0.8898 G=0.1102
1000Genomes African Sub 1322 A=0.8654 G=0.1346
1000Genomes East Asian Sub 1008 A=0.9087 G=0.0913
1000Genomes Europe Sub 1006 A=0.9056 G=0.0944
1000Genomes South Asian Sub 978 A=0.898 G=0.102
1000Genomes American Sub 694 A=0.875 G=0.125
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9277 G=0.0723
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9172 G=0.0828
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9142 G=0.0858
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.8559 G=0.1441
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.8896 G=0.1104
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.885 G=0.115
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.870 G=0.130
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.871 G=0.129
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.941 G=0.059
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.864 G=0.136
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.884 G=0.116
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
HapMap Global Study-wide 1892 A=0.8768 G=0.1232
HapMap American Sub 770 A=0.899 G=0.101
HapMap African Sub 692 A=0.853 G=0.147
HapMap Asian Sub 254 A=0.882 G=0.118
HapMap Europe Sub 176 A=0.869 G=0.131
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.930 G=0.070
Northern Sweden ACPOP Study-wide 600 A=0.938 G=0.062
Qatari Global Study-wide 216 A=0.870 G=0.130
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.907 G=0.093
SGDP_PRJ Global Study-wide 112 A=0.464 G=0.536
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 20 A=0.90 G=0.10
Siberian Global Study-wide 8 A=0.5 G=0.5
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 9 NC_000009.12:g.7004340A>G
GRCh38.p14 chr 9 NC_000009.12:g.7004340A>T
GRCh37.p13 chr 9 NC_000009.11:g.7004340A>G
GRCh37.p13 chr 9 NC_000009.11:g.7004340A>T
Gene: KDM4C, lysine demethylase 4C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KDM4C transcript variant 3 NM_001146695.4:c.1787-735…

NM_001146695.4:c.1787-7358A>G

N/A Intron Variant
KDM4C transcript variant 4 NM_001146696.2:c.1853-735…

NM_001146696.2:c.1853-7358A>G

N/A Intron Variant
KDM4C transcript variant 5 NM_001304339.4:c.1787-735…

NM_001304339.4:c.1787-7358A>G

N/A Intron Variant
KDM4C transcript variant 6 NM_001304340.4:c.1022-735…

NM_001304340.4:c.1022-7358A>G

N/A Intron Variant
KDM4C transcript variant 9 NM_001353997.3:c.1787-735…

NM_001353997.3:c.1787-7358A>G

N/A Intron Variant
KDM4C transcript variant 10 NM_001353998.3:c.1787-735…

NM_001353998.3:c.1787-7358A>G

N/A Intron Variant
KDM4C transcript variant 11 NM_001353999.3:c.476-7358…

NM_001353999.3:c.476-7358A>G

N/A Intron Variant
KDM4C transcript variant 12 NM_001354000.3:c.476-7358…

NM_001354000.3:c.476-7358A>G

N/A Intron Variant
KDM4C transcript variant 13 NM_001354001.3:c.476-7358…

NM_001354001.3:c.476-7358A>G

N/A Intron Variant
KDM4C transcript variant 1 NM_015061.6:c.1787-7358A>G N/A Intron Variant
KDM4C transcript variant 7 NM_001304341.4:c. N/A Genic Downstream Transcript Variant
KDM4C transcript variant 8 NR_130707.4:n. N/A Intron Variant
KDM4C transcript variant 14 NR_148677.3:n. N/A Intron Variant
KDM4C transcript variant 15 NR_148678.3:n. N/A Intron Variant
KDM4C transcript variant 16 NR_148679.3:n. N/A Intron Variant
KDM4C transcript variant 17 NR_148680.3:n. N/A Intron Variant
KDM4C transcript variant X1 XM_017014498.3:c.1787-735…

XM_017014498.3:c.1787-7358A>G

N/A Intron Variant
KDM4C transcript variant X2 XM_047423026.1:c.1244-735…

XM_047423026.1:c.1244-7358A>G

N/A Intron Variant
KDM4C transcript variant X3 XM_047423027.1:c.1244-735…

XM_047423027.1:c.1244-7358A>G

N/A Intron Variant
KDM4C transcript variant X4 XM_047423028.1:c.1178-735…

XM_047423028.1:c.1178-7358A>G

N/A Intron Variant
KDM4C transcript variant X5 XM_047423029.1:c.1244-735…

XM_047423029.1:c.1244-7358A>G

N/A Intron Variant
KDM4C transcript variant X7 XM_047423030.1:c.848-7358…

XM_047423030.1:c.848-7358A>G

N/A Intron Variant
KDM4C transcript variant X6 XR_001746255.3:n. N/A Intron 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 T
GRCh38.p14 chr 9 NC_000009.12:g.7004340= NC_000009.12:g.7004340A>G NC_000009.12:g.7004340A>T
GRCh37.p13 chr 9 NC_000009.11:g.7004340= NC_000009.11:g.7004340A>G NC_000009.11:g.7004340A>T
KDM4C transcript variant 2 NM_001146694.1:c.1787-7358= NM_001146694.1:c.1787-7358A>G NM_001146694.1:c.1787-7358A>T
KDM4C transcript variant 3 NM_001146695.1:c.1787-7358= NM_001146695.1:c.1787-7358A>G NM_001146695.1:c.1787-7358A>T
KDM4C transcript variant 3 NM_001146695.4:c.1787-7358= NM_001146695.4:c.1787-7358A>G NM_001146695.4:c.1787-7358A>T
KDM4C transcript variant 4 NM_001146696.1:c.1853-7358= NM_001146696.1:c.1853-7358A>G NM_001146696.1:c.1853-7358A>T
KDM4C transcript variant 4 NM_001146696.2:c.1853-7358= NM_001146696.2:c.1853-7358A>G NM_001146696.2:c.1853-7358A>T
KDM4C transcript variant 5 NM_001304339.4:c.1787-7358= NM_001304339.4:c.1787-7358A>G NM_001304339.4:c.1787-7358A>T
KDM4C transcript variant 6 NM_001304340.4:c.1022-7358= NM_001304340.4:c.1022-7358A>G NM_001304340.4:c.1022-7358A>T
KDM4C transcript variant 9 NM_001353997.3:c.1787-7358= NM_001353997.3:c.1787-7358A>G NM_001353997.3:c.1787-7358A>T
KDM4C transcript variant 10 NM_001353998.3:c.1787-7358= NM_001353998.3:c.1787-7358A>G NM_001353998.3:c.1787-7358A>T
KDM4C transcript variant 11 NM_001353999.3:c.476-7358= NM_001353999.3:c.476-7358A>G NM_001353999.3:c.476-7358A>T
KDM4C transcript variant 12 NM_001354000.3:c.476-7358= NM_001354000.3:c.476-7358A>G NM_001354000.3:c.476-7358A>T
KDM4C transcript variant 13 NM_001354001.3:c.476-7358= NM_001354001.3:c.476-7358A>G NM_001354001.3:c.476-7358A>T
KDM4C transcript variant 1 NM_015061.3:c.1787-7358= NM_015061.3:c.1787-7358A>G NM_015061.3:c.1787-7358A>T
KDM4C transcript variant 1 NM_015061.6:c.1787-7358= NM_015061.6:c.1787-7358A>G NM_015061.6:c.1787-7358A>T
KDM4C transcript variant X1 XM_005251407.1:c.1853-7358= XM_005251407.1:c.1853-7358A>G XM_005251407.1:c.1853-7358A>T
KDM4C transcript variant X2 XM_005251408.1:c.848-7358= XM_005251408.1:c.848-7358A>G XM_005251408.1:c.848-7358A>T
KDM4C transcript variant X1 XM_017014498.3:c.1787-7358= XM_017014498.3:c.1787-7358A>G XM_017014498.3:c.1787-7358A>T
KDM4C transcript variant X2 XM_047423026.1:c.1244-7358= XM_047423026.1:c.1244-7358A>G XM_047423026.1:c.1244-7358A>T
KDM4C transcript variant X3 XM_047423027.1:c.1244-7358= XM_047423027.1:c.1244-7358A>G XM_047423027.1:c.1244-7358A>T
KDM4C transcript variant X4 XM_047423028.1:c.1178-7358= XM_047423028.1:c.1178-7358A>G XM_047423028.1:c.1178-7358A>T
KDM4C transcript variant X5 XM_047423029.1:c.1244-7358= XM_047423029.1:c.1244-7358A>G XM_047423029.1:c.1244-7358A>T
KDM4C transcript variant X7 XM_047423030.1:c.848-7358= XM_047423030.1:c.848-7358A>G XM_047423030.1:c.848-7358A>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#.

107 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss18009717 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss20368993 Feb 27, 2004 (120)
3 PERLEGEN ss23970580 Sep 20, 2004 (123)
4 ABI ss43774930 Mar 15, 2006 (126)
5 ILLUMINA ss66571894 Dec 01, 2006 (127)
6 ILLUMINA ss66913710 Dec 01, 2006 (127)
7 ILLUMINA ss67049144 Dec 01, 2006 (127)
8 PERLEGEN ss69280590 May 17, 2007 (127)
9 ILLUMINA ss70386419 May 17, 2007 (127)
10 ILLUMINA ss70511376 May 23, 2008 (130)
11 ILLUMINA ss71038822 May 17, 2007 (127)
12 ILLUMINA ss74936637 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss85044194 Dec 14, 2007 (130)
14 1000GENOMES ss108558365 Jan 23, 2009 (130)
15 ILLUMINA ss121427381 Dec 01, 2009 (131)
16 ILLUMINA ss152894297 Dec 01, 2009 (131)
17 GMI ss157134849 Dec 01, 2009 (131)
18 ILLUMINA ss159156710 Dec 01, 2009 (131)
19 ILLUMINA ss159944838 Dec 01, 2009 (131)
20 ENSEMBL ss161733163 Dec 01, 2009 (131)
21 ILLUMINA ss169739510 Jul 04, 2010 (132)
22 ILLUMINA ss170889948 Jul 04, 2010 (132)
23 BUSHMAN ss200044458 Jul 04, 2010 (132)
24 1000GENOMES ss224099815 Jul 14, 2010 (132)
25 1000GENOMES ss234709668 Jul 15, 2010 (132)
26 1000GENOMES ss241506608 Jul 15, 2010 (132)
27 GMI ss280088894 May 04, 2012 (137)
28 GMI ss285962240 Apr 25, 2013 (138)
29 PJP ss294321054 May 09, 2011 (134)
30 ILLUMINA ss479423244 May 04, 2012 (137)
31 ILLUMINA ss479426778 May 04, 2012 (137)
32 ILLUMINA ss479845320 Sep 08, 2015 (146)
33 ILLUMINA ss484511511 May 04, 2012 (137)
34 ILLUMINA ss536660116 Sep 08, 2015 (146)
35 SSMP ss655640315 Apr 25, 2013 (138)
36 ILLUMINA ss778372740 Aug 21, 2014 (142)
37 ILLUMINA ss782702333 Aug 21, 2014 (142)
38 ILLUMINA ss783670348 Aug 21, 2014 (142)
39 ILLUMINA ss825355852 Apr 01, 2015 (144)
40 ILLUMINA ss831953513 Apr 01, 2015 (144)
41 ILLUMINA ss832669315 Aug 21, 2014 (142)
42 ILLUMINA ss833260004 Aug 21, 2014 (142)
43 ILLUMINA ss833827631 Aug 21, 2014 (142)
44 EVA-GONL ss986269563 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1076078154 Aug 21, 2014 (142)
46 1000GENOMES ss1332742966 Aug 21, 2014 (142)
47 EVA_GENOME_DK ss1582969769 Apr 01, 2015 (144)
48 EVA_DECODE ss1595895356 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1622169318 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1665163351 Apr 01, 2015 (144)
51 EVA_SVP ss1713087580 Apr 01, 2015 (144)
52 ILLUMINA ss1752779994 Sep 08, 2015 (146)
53 HAMMER_LAB ss1805861104 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1929549763 Feb 12, 2016 (147)
55 JJLAB ss2025482188 Sep 14, 2016 (149)
56 ILLUMINA ss2095218967 Dec 20, 2016 (150)
57 USC_VALOUEV ss2153712310 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2309072302 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2627217051 Nov 08, 2017 (151)
60 ILLUMINA ss2634831832 Nov 08, 2017 (151)
61 GRF ss2709508866 Nov 08, 2017 (151)
62 GNOMAD ss2874993023 Nov 08, 2017 (151)
63 SWEGEN ss3004325076 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3026529497 Nov 08, 2017 (151)
65 CSHL ss3348504602 Nov 08, 2017 (151)
66 ILLUMINA ss3630205041 Oct 12, 2018 (152)
67 ILLUMINA ss3632726113 Oct 12, 2018 (152)
68 ILLUMINA ss3633523580 Oct 12, 2018 (152)
69 ILLUMINA ss3634251436 Oct 12, 2018 (152)
70 ILLUMINA ss3635201143 Oct 12, 2018 (152)
71 ILLUMINA ss3635929680 Oct 12, 2018 (152)
72 ILLUMINA ss3636944326 Oct 12, 2018 (152)
73 ILLUMINA ss3637682957 Oct 12, 2018 (152)
74 ILLUMINA ss3638798175 Oct 12, 2018 (152)
75 ILLUMINA ss3639402839 Oct 12, 2018 (152)
76 ILLUMINA ss3639733272 Oct 12, 2018 (152)
77 ILLUMINA ss3640908434 Oct 12, 2018 (152)
78 ILLUMINA ss3643726250 Oct 12, 2018 (152)
79 ILLUMINA ss3653455169 Oct 12, 2018 (152)
80 EGCUT_WGS ss3672057040 Jul 13, 2019 (153)
81 EVA_DECODE ss3723402090 Jul 13, 2019 (153)
82 ACPOP ss3736275724 Jul 13, 2019 (153)
83 ILLUMINA ss3745501073 Jul 13, 2019 (153)
84 EVA ss3768866162 Jul 13, 2019 (153)
85 ILLUMINA ss3772993190 Jul 13, 2019 (153)
86 KHV_HUMAN_GENOMES ss3812025912 Jul 13, 2019 (153)
87 HGDP ss3847938114 Apr 26, 2020 (154)
88 SGDP_PRJ ss3871440612 Apr 26, 2020 (154)
89 KRGDB ss3919077373 Apr 26, 2020 (154)
90 EVA ss3985403286 Apr 26, 2021 (155)
91 EVA ss4017424560 Apr 26, 2021 (155)
92 TOPMED ss4811185875 Apr 26, 2021 (155)
93 TOMMO_GENOMICS ss5191914211 Apr 26, 2021 (155)
94 1000G_HIGH_COVERAGE ss5279662530 Oct 16, 2022 (156)
95 EVA ss5315380881 Oct 16, 2022 (156)
96 EVA ss5385792024 Oct 16, 2022 (156)
97 HUGCELL_USP ss5475958691 Oct 16, 2022 (156)
98 EVA ss5509616404 Oct 16, 2022 (156)
99 1000G_HIGH_COVERAGE ss5571351825 Oct 16, 2022 (156)
100 SANFORD_IMAGENETICS ss5646828070 Oct 16, 2022 (156)
101 TOMMO_GENOMICS ss5734917611 Oct 16, 2022 (156)
102 EVA ss5799775672 Oct 16, 2022 (156)
103 YY_MCH ss5810309927 Oct 16, 2022 (156)
104 EVA ss5828797542 Oct 16, 2022 (156)
105 EVA ss5856653643 Oct 16, 2022 (156)
106 EVA ss5915369701 Oct 16, 2022 (156)
107 EVA ss5976094624 Oct 16, 2022 (156)
108 1000Genomes NC_000009.11 - 7004340 Oct 12, 2018 (152)
109 1000Genomes_30x NC_000009.12 - 7004340 Oct 16, 2022 (156)
110 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 7004340 Oct 12, 2018 (152)
111 Genetic variation in the Estonian population NC_000009.11 - 7004340 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000009.11 - 7004340 Apr 26, 2020 (154)
113 gnomAD - Genomes NC_000009.12 - 7004340 Apr 26, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000009.11 - 7004340 Apr 26, 2020 (154)
115 HGDP-CEPH-db Supplement 1 NC_000009.10 - 6994340 Apr 26, 2020 (154)
116 HapMap NC_000009.12 - 7004340 Apr 26, 2020 (154)
117 KOREAN population from KRGDB NC_000009.11 - 7004340 Apr 26, 2020 (154)
118 Northern Sweden NC_000009.11 - 7004340 Jul 13, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 7004340 Apr 26, 2021 (155)
120 Qatari NC_000009.11 - 7004340 Apr 26, 2020 (154)
121 SGDP_PRJ NC_000009.11 - 7004340 Apr 26, 2020 (154)
122 Siberian NC_000009.11 - 7004340 Apr 26, 2020 (154)
123 8.3KJPN NC_000009.11 - 7004340 Apr 26, 2021 (155)
124 14KJPN NC_000009.12 - 7004340 Oct 16, 2022 (156)
125 TopMed NC_000009.12 - 7004340 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000009.11 - 7004340 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000009.11 - 7004340 Jul 13, 2019 (153)
128 ALFA NC_000009.12 - 7004340 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)
rs57144103 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639402839, ss3639733272 NC_000009.9:6994339:A:G NC_000009.12:7004339:A:G (self)
616006, ss108558365, ss159944838, ss200044458, ss280088894, ss285962240, ss294321054, ss479423244, ss825355852, ss1595895356, ss1713087580, ss3643726250, ss3847938114 NC_000009.10:6994339:A:G NC_000009.12:7004339:A:G (self)
44966771, 25020638, 17795288, 9134706, 11158014, 26254767, 9560589, 629213, 11591693, 23457592, 6228664, 49883518, 25020638, 5554222, ss224099815, ss234709668, ss241506608, ss479426778, ss479845320, ss484511511, ss536660116, ss655640315, ss778372740, ss782702333, ss783670348, ss831953513, ss832669315, ss833260004, ss833827631, ss986269563, ss1076078154, ss1332742966, ss1582969769, ss1622169318, ss1665163351, ss1752779994, ss1805861104, ss1929549763, ss2025482188, ss2095218967, ss2153712310, ss2627217051, ss2634831832, ss2709508866, ss2874993023, ss3004325076, ss3348504602, ss3630205041, ss3632726113, ss3633523580, ss3634251436, ss3635201143, ss3635929680, ss3636944326, ss3637682957, ss3638798175, ss3640908434, ss3653455169, ss3672057040, ss3736275724, ss3745501073, ss3768866162, ss3772993190, ss3871440612, ss3919077373, ss3985403286, ss4017424560, ss5191914211, ss5315380881, ss5385792024, ss5509616404, ss5646828070, ss5799775672, ss5828797542, ss5976094624 NC_000009.11:7004339:A:G NC_000009.12:7004339:A:G (self)
58877760, 316984514, 3767982, 68754715, 648563436, 5786141891, ss2309072302, ss3026529497, ss3723402090, ss3812025912, ss4811185875, ss5279662530, ss5475958691, ss5571351825, ss5734917611, ss5810309927, ss5856653643, ss5915369701 NC_000009.12:7004339:A:G NC_000009.12:7004339:A:G (self)
ss18009717, ss20368993 NT_008413.16:6994339:A:G NC_000009.12:7004339:A:G (self)
ss23970580, ss43774930, ss66571894, ss66913710, ss67049144, ss69280590, ss70386419, ss70511376, ss71038822, ss74936637, ss85044194, ss121427381, ss152894297, ss157134849, ss159156710, ss161733163, ss169739510, ss170889948 NT_008413.18:6994339:A:G NC_000009.12:7004339:A:G (self)
58877760, ss5571351825 NC_000009.12:7004339:A:T NC_000009.12:7004339:A:T
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs10975965
PMID Title Author Year Journal
32999326 Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset. Sng LMF et al. 2020 Scientific reports
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