rs11902680

Homo sapiens
C>A
CCDC85A : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0348 (10382/29800,GnomAD)
A=0372 (10839/29116,TOPMED)
A=0335 (1677/5008,1000G)
A=0310 (1193/3854,ALSPAC)
A=0303 (1123/3708,TWINSUK)
chr2:56384590 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.56384590C>A
GRCh37.p13 chr 2NC_000002.11:g.56611725C>A

Gene: CCDC85A, coiled-coil domain containing 85A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC85A transcript variant 2NM_001080433.1:c.N/A3 Prime UTR Variant
CCDC85A transcript variant X1XM_005264125.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.423A=0.577
1000GenomesAmericanSub694C=0.710A=0.290
1000GenomesEast AsianSub1008C=0.867A=0.133
1000GenomesEuropeSub1006C=0.707A=0.293
1000GenomesGlobalStudy-wide5008C=0.665A=0.335
1000GenomesSouth AsianSub978C=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.690A=0.310
The Genome Aggregation DatabaseAfricanSub8688C=0.492A=0.508
The Genome Aggregation DatabaseAmericanSub830C=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1560C=0.860A=0.140
The Genome Aggregation DatabaseEuropeSub18420C=0.706A=0.293
The Genome Aggregation DatabaseGlobalStudy-wide29800C=0.651A=0.348
The Genome Aggregation DatabaseOtherSub302C=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.627A=0.372
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.697A=0.303
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs119026800.000567alcohol consumption (maxi-drinks)24277619

eQTL of rs11902680 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 rs11902680 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 )
chr25657536856575429E067-36296
chr25657546156575511E067-36214
chr25657551356575903E067-35822
chr25657536856575429E068-36296
chr25657546156575511E068-36214
chr25657551356575903E068-35822
chr25657592656576700E070-35025
chr25656181256561900E071-49825
chr25656191556562049E071-49676
chr25656181256561900E073-49825
chr25656191556562049E073-49676
chr25657546156575511E073-36214
chr25657551356575903E073-35822
chr25657536856575429E081-36296
chr25657546156575511E081-36214
chr25657551356575903E081-35822
chr25657592656576700E081-35025
chr25660239156602748E081-8977
chr25657536856575429E082-36296
chr25657546156575511E082-36214
chr25657592656576700E082-35025