rs9808416

Homo sapiens
C>T
CCDC85A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0195 (5841/29894,GnomAD)
T=0239 (6978/29116,TOPMED)
T=0258 (1294/5008,1000G)
T=0121 (465/3854,ALSPAC)
T=0120 (444/3708,TWINSUK)
chr2:56336687 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.56336687C>T
GRCh37.p13 chr 2NC_000002.11:g.56563822C>T

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/AIntron Variant
CCDC85A transcript variant X1XM_005264125.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.559T=0.441
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.679T=0.321
1000GenomesEuropeSub1006C=0.882T=0.118
1000GenomesGlobalStudy-wide5008C=0.742T=0.258
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.879T=0.121
The Genome Aggregation DatabaseAfricanSub8666C=0.612T=0.388
The Genome Aggregation DatabaseAmericanSub838C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1612C=0.690T=0.310
The Genome Aggregation DatabaseEuropeSub18476C=0.898T=0.101
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.804T=0.195
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.760T=0.239
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.880T=0.120
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs98084162E-05alcoholism (heaviness of drinking)21529783

eQTL of rs9808416 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 rs9808416 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 )
chr25654139656541447E067-22375
chr25657536856575429E06711546
chr25657546156575511E06711639
chr25657551356575903E06711691
chr25657536856575429E06811546
chr25657546156575511E06811639
chr25657551356575903E06811691
chr25652627956526385E069-37437
chr25652646456526535E069-37287
chr25652659756526749E069-37073
chr25651514356515440E070-48382
chr25651569056515762E070-48060
chr25651592456516262E070-47560
chr25657592656576700E07012104
chr25656106456561227E071-2595
chr25656181256561900E071-1922
chr25656191556562049E071-1773
chr25655280056553076E072-10746
chr25655314156553519E072-10303
chr25654058656541206E073-22616
chr25656106456561227E073-2595
chr25656181256561900E073-1922
chr25656191556562049E073-1773
chr25657546156575511E07311639
chr25657551356575903E07311691
chr25652496256525160E081-38662
chr25652526156525669E081-38153
chr25652627956526385E081-37437
chr25652646456526535E081-37287
chr25652659756526749E081-37073
chr25653690556537129E081-26693
chr25657536856575429E08111546
chr25657546156575511E08111639
chr25657551356575903E08111691
chr25657592656576700E08112104
chr25660239156602748E08138569
chr25652627956526385E082-37437
chr25652646456526535E082-37287
chr25652659756526749E082-37073
chr25657536856575429E08211546
chr25657546156575511E08211639
chr25657592656576700E08212104