rs6959295

Homo sapiens
C>T
AOAH : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0327 (9805/29920,GnomAD)
T=0300 (8751/29118,TOPMED)
T=0357 (1787/5008,1000G)
T=0334 (1289/3854,ALSPAC)
T=0315 (1168/3708,TWINSUK)
chr7:36659079 (GRCh38.p7) (7p14.2)
CD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.36659079C>T
GRCh37.p13 chr 7NC_000007.13:g.36698684C>T

Gene: AOAH, acyloxyacyl hydrolase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
AOAH transcript variant 2NM_001177506.1:c.N/AIntron Variant
AOAH transcript variant 3NM_001177507.1:c.N/AIntron Variant
AOAH transcript variant 1NM_001637.3:c.N/AIntron Variant
AOAH transcript variant X1XM_011515333.2:c.N/AIntron Variant
AOAH transcript variant X2XM_011515334.2:c.N/AIntron Variant
AOAH transcript variant X3XM_011515335.2:c.N/AIntron Variant
AOAH transcript variant X4XM_011515336.2:c.N/AIntron Variant
AOAH transcript variant X6XM_011515338.2:c.N/AIntron Variant
AOAH transcript variant X7XM_011515339.2:c.N/AIntron Variant
AOAH transcript variant X9XM_011515340.2:c.N/AIntron Variant
AOAH transcript variant X12XM_011515341.2:c.N/AIntron Variant
AOAH transcript variant X5XM_017012102.1:c.N/AIntron Variant
AOAH transcript variant X8XM_017012103.1:c.N/AIntron Variant
AOAH transcript variant X8XM_017012104.1:c.N/AIntron Variant
AOAH transcript variant X11XM_017012106.1:c.N/AIntron Variant
AOAH transcript variant X13XM_011515342.2:c.N/AGenic Upstream Transcript Variant
AOAH transcript variant X10XM_017012105.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.734T=0.266
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.570T=0.430
1000GenomesEuropeSub1006C=0.654T=0.346
1000GenomesGlobalStudy-wide5008C=0.643T=0.357
1000GenomesSouth AsianSub978C=0.540T=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.666T=0.334
The Genome Aggregation DatabaseAfricanSub8704C=0.709T=0.291
The Genome Aggregation DatabaseAmericanSub838C=0.700T=0.300
The Genome Aggregation DatabaseEast AsianSub1614C=0.571T=0.429
The Genome Aggregation DatabaseEuropeSub18462C=0.663T=0.336
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.672T=0.327
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.699T=0.300
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.685T=0.315
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs69592952.98E-05cocaine dependence23958962

eQTL of rs6959295 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 rs6959295 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 )
chr73669801536699250E0670
chr73666348836663544E068-35140
chr73666369536663745E068-34939
chr73666406136664125E068-34559
chr73666824736668297E068-30387
chr73669801536699250E0680
chr73666276236663174E069-35510
chr73666348836663544E069-35140
chr73666369536663745E069-34939
chr73669801536699250E0690
chr73666066736660863E070-37821
chr73666104136661177E070-37507
chr73666118236661389E070-37295
chr73667185636671914E070-26770
chr73667215436672270E070-26414
chr73667227236672360E070-26324
chr73667240536672569E070-26115
chr73667259536672645E070-26039
chr73667269036672828E070-25856
chr73667565336676598E070-22086
chr73669408336694181E070-4503
chr73669418536694236E070-4448
chr73669801536699250E0700
chr73666276236663174E071-35510
chr73669801536699250E0710
chr73669801536699250E0720
chr73673120136731251E07232517
chr73673147036731552E07232786
chr73666276236663174E074-35510
chr73666348836663544E074-35140
chr73666369536663745E074-34939
chr73666530036665354E074-33330
chr73669801536699250E0740
chr73673120136731251E07432517
chr73673147036731552E07432786
chr73665383436653884E081-44800
chr73665399236654065E081-44619
chr73665408436654143E081-44541
chr73666140036661484E081-37200
chr73666157936661680E081-37004
chr73666178136661831E081-36853
chr73667681736676977E081-21707
chr73667702636677076E081-21608
chr73667713036677457E081-21227
chr73668991036689962E081-8722
chr73669018836690270E081-8414
chr73669054336690700E081-7984
chr73669071436690963E081-7721
chr73669264636693992E081-4692
chr73667565336676598E082-22086
chr73667665036676722E082-21962