rs9312182

Homo sapiens
T>C / T>G
CENPC : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0390 (11688/29916,GnomAD)
T==0372 (10838/29118,TOPMED)
T==0304 (1523/5008,1000G)
T==0391 (1505/3854,ALSPAC)
T==0397 (1473/3708,TWINSUK)
chr4:67484590 (GRCh38.p7) (4q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.67484590T>C
GRCh38.p7 chr 4NC_000004.12:g.67484590T>G
GRCh37.p13 chr 4NC_000004.11:g.68350308T>C
GRCh37.p13 chr 4NC_000004.11:g.68350308T>G

Gene: CENPC, centromere protein C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CENPC transcriptNM_001812.2:c.N/AIntron Variant
CENPC transcript variant X1XM_006714064.2:c.N/AIntron Variant
CENPC transcript variant X3XM_011531542.2:c.N/AGenic Downstream Transcript Variant
CENPC transcript variant X2XR_245245.3:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.395C=0.605
1000GenomesAmericanSub694T=0.250C=0.750
1000GenomesEast AsianSub1008T=0.174C=0.826
1000GenomesEuropeSub1006T=0.375C=0.625
1000GenomesGlobalStudy-wide5008T=0.304C=0.696
1000GenomesSouth AsianSub978T=0.280C=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.391C=0.609
The Genome Aggregation DatabaseAfricanSub8688T=0.380G=0.000
The Genome Aggregation DatabaseAmericanSub838T=0.240G=0.00,
The Genome Aggregation DatabaseEast AsianSub1620T=0.175G=0.001
The Genome Aggregation DatabaseEuropeSub18468T=0.422G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.390G=0.000
The Genome Aggregation DatabaseOtherSub302T=0.320G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.372C=0.627
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.397C=0.603
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs93121820.00092alcohol dependence20201924

eQTL of rs9312182 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 rs9312182 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 )
chr4185427848185428119E067-32203
chr4185433085185433164E067-27158
chr4185434953185435023E067-25299
chr4185435109185436158E067-24164
chr4185436244185436294E067-24028
chr4185450033185450190E067-10132
chr4185454845185454929E067-5393
chr4185454957185455007E067-5315
chr4185455283185455335E067-4987
chr4185455348185455395E067-4927
chr4185455501185456512E067-3810
chr4185456688185456763E067-3559
chr4185456935185457082E067-3240
chr4185457142185457248E067-3074
chr4185457330185457425E067-2897
chr4185424966185425050E068-35272
chr4185427848185428119E068-32203
chr4185433085185433164E068-27158
chr4185433263185433330E068-26992
chr4185436244185436294E068-24028
chr4185436918185436992E068-23330
chr4185450033185450190E068-10132
chr4185450459185450788E068-9534
chr4185456688185456763E068-3559
chr4185456935185457082E068-3240
chr4185457142185457248E068-3074
chr4185457330185457425E068-2897
chr4185424966185425050E069-35272
chr4185425557185425654E069-34668
chr4185427848185428119E069-32203
chr4185433085185433164E069-27158
chr4185433263185433330E069-26992
chr4185433441185433553E069-26769
chr4185434953185435023E069-25299
chr4185435109185436158E069-24164
chr4185436244185436294E069-24028
chr4185436918185436992E069-23330
chr4185450033185450190E069-10132
chr4185450459185450788E069-9534
chr4185452083185452161E069-8161
chr4185455501185456512E069-3810
chr4185456688185456763E069-3559
chr4185456935185457082E069-3240
chr4185457142185457248E069-3074
chr4185457330185457425E069-2897
chr4185433085185433164E070-27158
chr4185424966185425050E071-35272
chr4185427848185428119E071-32203
chr4185433085185433164E071-27158
chr4185433263185433330E071-26992
chr4185433441185433553E071-26769
chr4185434953185435023E071-25299
chr4185436244185436294E071-24028
chr4185436918185436992E071-23330
chr4185450033185450190E071-10132
chr4185450459185450788E071-9534
chr4185454845185454929E071-5393
chr4185454957185455007E071-5315
chr4185455283185455335E071-4987
chr4185455348185455395E071-4927
chr4185455501185456512E071-3810
chr4185456688185456763E071-3559
chr4185456935185457082E071-3240
chr4185457142185457248E071-3074
chr4185457330185457425E071-2897
chr4185424966185425050E072-35272
chr4185425557185425654E072-34668
chr4185427848185428119E072-32203
chr4185433085185433164E072-27158
chr4185433263185433330E072-26992
chr4185433441185433553E072-26769
chr4185434953185435023E072-25299
chr4185436244185436294E072-24028
chr4185436918185436992E072-23330
chr4185450033185450190E072-10132
chr4185450459185450788E072-9534
chr4185456935185457082E072-3240
chr4185457142185457248E072-3074
chr4185457330185457425E072-2897
chr4185427848185428119E073-32203
chr4185434953185435023E073-25299
chr4185435109185436158E073-24164
chr4185436244185436294E073-24028
chr4185457142185457248E073-3074
chr4185457330185457425E073-2897
chr4185424966185425050E074-35272
chr4185427848185428119E074-32203
chr4185433085185433164E074-27158
chr4185433263185433330E074-26992
chr4185433441185433553E074-26769
chr4185434953185435023E074-25299
chr4185435109185436158E074-24164
chr4185436244185436294E074-24028
chr4185436918185436992E074-23330
chr4185450033185450190E074-10132
chr4185450459185450788E074-9534
chr4185455501185456512E074-3810
chr4185456688185456763E074-3559
chr4185456935185457082E074-3240
chr4185457142185457248E074-3074
chr4185457330185457425E074-2897
chr4185424966185425050E081-35272









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4185457910185459735E067-587
chr4185457910185459735E068-587
chr4185457910185459735E069-587
chr4185457910185459735E070-587
chr4185457910185459735E071-587
chr4185457910185459735E072-587
chr4185457910185459735E073-587
chr4185457910185459735E074-587
chr4185457910185459735E081-587
chr4185457910185459735E082-587