rs10956525

Homo sapiens
T>C
ASAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0139 (4176/29924,GnomAD)
C=0120 (3503/29118,TOPMED)
C=0160 (800/5008,1000G)
C=0175 (676/3854,ALSPAC)
C=0180 (668/3708,TWINSUK)
chr8:130430605 (GRCh38.p7) (8q24.22)
AD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.130430605T>C
GRCh37.p13 chr 8NC_000008.10:g.131442851T>C
ASAP1 RefSeqGeneNG_030354.1:g.18056A>G

Gene: ASAP1, ArfGAP with SH3 domain, ankyrin repeat and PH domain 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ASAP1 transcript variant 2NM_001247996.1:c.N/AIntron Variant
ASAP1 transcript variant 1NM_018482.3:c.N/AIntron Variant
ASAP1 transcript variant X1XM_005250925.1:c.N/AIntron Variant
ASAP1 transcript variant X4XM_006716564.1:c.N/AIntron Variant
ASAP1 transcript variant X8XM_006716566.1:c.N/AIntron Variant
ASAP1 transcript variant X9XM_017013468.1:c.N/AIntron Variant
ASAP1 transcript variant X10XM_017013469.1:c.N/AIntron Variant
ASAP1 transcript variant X2XM_006716563.3:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X7XM_006716565.3:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X3XM_011517052.2:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X5XM_011517053.1:c.N/AGenic Upstream Transcript Variant
ASAP1 transcript variant X6XM_017013467.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.988C=0.012
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.752C=0.248
1000GenomesEuropeSub1006T=0.829C=0.171
1000GenomesGlobalStudy-wide5008T=0.840C=0.160
1000GenomesSouth AsianSub978T=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.825C=0.175
The Genome Aggregation DatabaseAfricanSub8720T=0.962C=0.038
The Genome Aggregation DatabaseAmericanSub838T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1620T=0.767C=0.233
The Genome Aggregation DatabaseEuropeSub18446T=0.828C=0.171
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.860C=0.139
The Genome Aggregation DatabaseOtherSub300T=0.710C=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.879C=0.120
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.820C=0.180
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
rs109565252.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs10956525 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 rs10956525 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 )
chr8131451909131452477E0679058
chr8131452815131452855E0679964
chr8131452951131453011E06710100
chr8131453159131453497E06710308
chr8131453517131453576E06710666
chr8131398847131399286E068-43565
chr8131408499131409358E068-33493
chr8131428073131428812E068-14039
chr8131428817131429156E068-13695
chr8131429220131429527E068-13324
chr8131429556131429744E068-13107
chr8131449600131449650E0686749
chr8131449723131449829E0686872
chr8131449867131451143E0687016
chr8131452815131452855E0689964
chr8131452951131453011E06810100
chr8131453159131453497E06810308
chr8131453517131453576E06810666
chr8131475677131475848E06832826
chr8131475861131475971E06833010
chr8131476015131476106E06833164
chr8131476156131476631E06833305
chr8131476641131477148E06833790
chr8131477854131478479E06835003
chr8131398847131399286E069-43565
chr8131428073131428812E069-14039
chr8131431253131432163E069-10688
chr8131442855131442948E0694
chr8131443074131443438E069223
chr8131443567131443650E069716
chr8131452815131452855E0699964
chr8131452951131453011E06910100
chr8131453159131453497E06910308
chr8131453517131453576E06910666
chr8131476156131476631E06933305
chr8131476641131477148E06933790
chr8131408499131409358E070-33493
chr8131414665131414719E070-28132
chr8131415012131415066E070-27785
chr8131423899131424057E070-18794
chr8131424102131424177E070-18674
chr8131424298131424348E070-18503
chr8131427375131427460E070-15391
chr8131428817131429156E070-13695
chr8131429770131430277E070-12574
chr8131430386131430478E070-12373
chr8131431253131432163E070-10688
chr8131449867131451143E0707016
chr8131451171131451272E0708320
chr8131451357131451431E0708506
chr8131451436131451505E0708585
chr8131451661131451727E0708810
chr8131451749131451889E0708898
chr8131451909131452477E0709058
chr8131458284131458324E07015433
chr8131458365131458644E07015514
chr8131465726131466175E07022875
chr8131468858131468978E07026007
chr8131469507131469570E07026656
chr8131469647131469989E07026796
chr8131470016131470160E07027165
chr8131470269131470329E07027418
chr8131475677131475848E07032826
chr8131475861131475971E07033010
chr8131476015131476106E07033164
chr8131476156131476631E07033305
chr8131480443131480527E07037592
chr8131480980131481083E07038129
chr8131481272131481322E07038421
chr8131481558131481648E07038707
chr8131482107131482186E07039256
chr8131428073131428812E071-14039
chr8131428817131429156E071-13695
chr8131429220131429527E071-13324
chr8131449474131449597E0716623
chr8131449600131449650E0716749
chr8131449723131449829E0716872
chr8131449867131451143E0717016
chr8131452951131453011E07110100
chr8131453159131453497E07110308
chr8131453517131453576E07110666
chr8131428817131429156E072-13695
chr8131431095131431252E072-11599
chr8131431253131432163E072-10688
chr8131449867131451143E0727016
chr8131452951131453011E07210100
chr8131453159131453497E07210308
chr8131453517131453576E07210666
chr8131428817131429156E073-13695
chr8131429220131429527E073-13324
chr8131442570131442642E073-209
chr8131442855131442948E0734
chr8131443074131443438E073223
chr8131443567131443650E073716
chr8131445007131445087E0732156
chr8131445230131445373E0732379
chr8131445380131445437E0732529
chr8131449867131451143E0737016
chr8131452815131452855E0739964
chr8131452951131453011E07310100
chr8131453159131453497E07310308
chr8131453517131453576E07310666
chr8131428817131429156E074-13695
chr8131429220131429527E074-13324
chr8131429556131429744E074-13107
chr8131429770131430277E074-12574
chr8131431253131432163E074-10688
chr8131445380131445437E0742529
chr8131445658131445920E0742807
chr8131449474131449597E0746623
chr8131449867131451143E0747016
chr8131451171131451272E0748320
chr8131451357131451431E0748506
chr8131451436131451505E0748585
chr8131452815131452855E0749964
chr8131452951131453011E07410100
chr8131453159131453497E07410308
chr8131453517131453576E07410666
chr8131408499131409358E081-33493
chr8131452815131452855E0819964
chr8131452951131453011E08110100
chr8131453159131453497E08110308
chr8131453517131453576E08110666
chr8131475076131475305E08132225
chr8131475347131475438E08132496
chr8131475677131475848E08132826
chr8131475861131475971E08133010
chr8131476015131476106E08133164
chr8131476156131476631E08133305
chr8131476641131477148E08133790
chr8131428817131429156E082-13695
chr8131429220131429527E082-13324
chr8131451357131451431E0828506
chr8131451436131451505E0828585
chr8131451661131451727E0828810
chr8131451749131451889E0828898
chr8131451909131452477E0829058
chr8131452815131452855E0829964
chr8131452951131453011E08210100
chr8131475677131475848E08232826
chr8131475861131475971E08233010
chr8131476015131476106E08233164
chr8131476156131476631E08233305
chr8131476641131477148E08233790
chr8131477781131477847E08234930
chr8131477854131478479E08235003










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr8131453650131457893E06710799
chr8131453650131457893E06810799
chr8131453650131457893E06910799
chr8131453650131457893E07010799
chr8131453650131457893E07210799
chr8131453650131457893E08210799