rs11946612

Homo sapiens
T>A / T>C
CENPC : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0389 (11612/29784,GnomAD)
T==0372 (10837/29118,TOPMED)
T==0304 (1524/5008,1000G)
chr4:67470253 (GRCh38.p7) (4q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.67470253T>A
GRCh38.p7 chr 4NC_000004.12:g.67470253T>C
GRCh37.p13 chr 4NC_000004.11:g.68335971T>A
GRCh37.p13 chr 4NC_000004.11:g.68335971T>C

Gene: CENPC, centromere protein C(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CENPC transcriptNM_001812.2:c.N/AGenic Downstream Transcript Variant
CENPC transcript variant X1XM_006714064.2:c.N/A3 Prime UTR Variant
CENPC transcript variant X3XM_011531542.2:c.N/AGenic Downstream Transcript Variant
CENPC transcript variant X2XR_245245.3:n.554...XR_245245.3:n.5548A>TA>TNon Coding Transcript Variant
CENPC transcript variant X2XR_245245.3:n.554...XR_245245.3:n.5548A>GA>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.396C=0.604
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 Genome Aggregation DatabaseAfricanSub8676T=0.380A=0.000
The Genome Aggregation DatabaseAmericanSub836T=0.240A=0.00,
The Genome Aggregation DatabaseEast AsianSub1608T=0.175A=0.000
The Genome Aggregation DatabaseEuropeSub18362T=0.421A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29784T=0.389A=0.000
The Genome Aggregation DatabaseOtherSub302T=0.310A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.372C=0.627
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
rs119466120.000707alcohol dependence20201924

eQTL of rs11946612 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 rs11946612 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.