rs17047859

Homo sapiens
A>C
CCDC85A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0033 (1014/29984,GnomAD)
C=0047 (1394/29116,TOPMED)
C=0040 (198/5008,1000G)
C=0000 (0/3854,ALSPAC)
C=0001 (2/3708,TWINSUK)
chr2:56373534 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.56373534A>C
GRCh37.p13 chr 2NC_000002.11:g.56600669A>C

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
1000GenomesAfricanSub1322A=0.854C=0.146
1000GenomesAmericanSub694A=0.990C=0.010
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=1.000C=0.000
1000GenomesGlobalStudy-wide5008A=0.960C=0.040
1000GenomesSouth AsianSub978A=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8728A=0.885C=0.115
The Genome Aggregation DatabaseAmericanSub836A=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1620A=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18498A=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29984A=0.966C=0.033
The Genome Aggregation DatabaseOtherSub302A=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.952C=0.047
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.999C=0.001
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs170478590.000155alcohol dependence21314694

eQTL of rs17047859 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 rs17047859 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 )
chr25657536856575429E067-25240
chr25657546156575511E067-25158
chr25657551356575903E067-24766
chr25657536856575429E068-25240
chr25657546156575511E068-25158
chr25657551356575903E068-24766
chr25657592656576700E070-23969
chr25656106456561227E071-39442
chr25656181256561900E071-38769
chr25656191556562049E071-38620
chr25655280056553076E072-47593
chr25655314156553519E072-47150
chr25656106456561227E073-39442
chr25656181256561900E073-38769
chr25656191556562049E073-38620
chr25657546156575511E073-25158
chr25657551356575903E073-24766
chr25657536856575429E081-25240
chr25657546156575511E081-25158
chr25657551356575903E081-24766
chr25657592656576700E081-23969
chr25660239156602748E0811722
chr25657536856575429E082-25240
chr25657546156575511E082-25158
chr25657592656576700E082-23969