rs6000351

Homo sapiens
G>A
CACNG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0088 (2648/29970,GnomAD)
A=0113 (3306/29114,TOPMED)
A=0077 (384/5008,1000G)
A=0101 (391/3854,ALSPAC)
A=0101 (374/3708,TWINSUK)
chr22:36614820 (GRCh38.p7) (22q12.3)
ND
GWASdb2
2   publication(s)
See rs on genome
69 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.36614820G>A
GRCh37.p13 chr 22NC_000022.10:g.37010867G>A
CACNG2 RefSeqGeneNG_031861.1:g.92824C>T

Gene: CACNG2, calcium voltage-gated channel auxiliary subunit gamma 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CACNG2 transcriptNM_006078.3:c.N/AIntron Variant
CACNG2 transcript variant X1XM_017028531.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.880A=0.120
1000GenomesAmericanSub694G=0.920A=0.080
1000GenomesEast AsianSub1008G=0.997A=0.003
1000GenomesEuropeSub1006G=0.902A=0.098
1000GenomesGlobalStudy-wide5008G=0.923A=0.077
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.899A=0.101
The Genome Aggregation DatabaseAfricanSub8724G=0.889A=0.111
The Genome Aggregation DatabaseAmericanSub838G=0.950A=0.050
The Genome Aggregation DatabaseEast AsianSub1622G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18484G=0.914A=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29970G=0.911A=0.088
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.886A=0.113
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.899A=0.101
PMID Title Author Journal
25956309Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.Palomba GBMC Cancer
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs60003512.95E-05alcohol and nictotine co-dependence20158304

eQTL of rs6000351 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs6000351 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr223698348436983679E067-27188
chr223698368336984068E067-26799
chr223698413536984206E067-26661
chr223698433836984388E067-26479
chr223698456436984697E067-26170
chr223699128036991340E067-19527
chr223699139336991443E067-19424
chr223699147936991559E067-19308
chr223705502437055261E06744157
chr223705535737055411E06744490
chr223705545437055504E06744587
chr223705568637056638E06744819
chr223705678437056834E06745917
chr223698348436983679E068-27188
chr223698368336984068E068-26799
chr223698413536984206E068-26661
chr223698433836984388E068-26479
chr223698456436984697E068-26170
chr223705502437055261E06844157
chr223705535737055411E06844490
chr223705545437055504E06844587
chr223705678437056834E06845917
chr223698456436984697E069-26170
chr223705502437055261E06944157
chr223705535737055411E06944490
chr223705545437055504E06944587
chr223705568637056638E06944819
chr223705678437056834E06945917
chr223703286737033274E07022000
chr223703335137033503E07022484
chr223703355337033614E07022686
chr223705568637056638E07044819
chr223698413536984206E071-26661
chr223698433836984388E071-26479
chr223705502437055261E07144157
chr223705535737055411E07144490
chr223705545437055504E07144587
chr223698276536982815E072-28052
chr223698303236983082E072-27785
chr223698456436984697E072-26170
chr223699372636993792E072-17075
chr223705502437055261E07244157
chr223705535737055411E07244490
chr223705545437055504E07244587
chr223698456436984697E073-26170
chr223698697936987075E073-23792
chr223698795036988007E073-22860
chr223699128036991340E073-19527
chr223699139336991443E073-19424
chr223699147936991559E073-19308
chr223705502437055261E07344157
chr223705535737055411E07344490
chr223705545437055504E07344587
chr223705568637056638E07344819
chr223705678437056834E07345917
chr223705535737055411E07444490
chr223705545437055504E07444587
chr223705678437056834E07445917
chr223699128036991340E081-19527
chr223702311037023160E08112243
chr223702336837023432E08112501
chr223703888237039091E08128015
chr223705568637056638E08144819
chr223705678437056834E08145917
chr223703286737033274E08222000
chr223703335137033503E08222484
chr223703355337033614E08222686
chr223705568637056638E08244819
chr223705678437056834E08245917