rs7004884

Homo sapiens
A>G
ASAP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0305 (9139/29930,GnomAD)
A==0294 (8573/29118,TOPMED)
A==0262 (1311/5008,1000G)
A==0301 (1159/3854,ALSPAC)
A==0301 (1116/3708,TWINSUK)
chr8:130123023 (GRCh38.p7) (8q24.21)
AD
GWASdb2
1   publication(s)
See rs on genome
225 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.130123023A>G
GRCh37.p13 chr 8NC_000008.10:g.131135269A>G
ASAP1 RefSeqGeneNG_030354.1:g.325638T>C

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 X2XM_006716563.3:c.N/AIntron Variant
ASAP1 transcript variant X4XM_006716564.1:c.N/AIntron Variant
ASAP1 transcript variant X7XM_006716565.3:c.N/AIntron Variant
ASAP1 transcript variant X8XM_006716566.1:c.N/AIntron Variant
ASAP1 transcript variant X3XM_011517052.2:c.N/AIntron Variant
ASAP1 transcript variant X5XM_011517053.1:c.N/AIntron Variant
ASAP1 transcript variant X6XM_017013467.1:c.N/AIntron Variant
ASAP1 transcript variant X9XM_017013468.1:c.N/AIntron Variant
ASAP1 transcript variant X10XM_017013469.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.265G=0.735
1000GenomesAmericanSub694A=0.330G=0.670
1000GenomesEast AsianSub1008A=0.246G=0.754
1000GenomesEuropeSub1006A=0.289G=0.711
1000GenomesGlobalStudy-wide5008A=0.262G=0.738
1000GenomesSouth AsianSub978A=0.200G=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.301G=0.699
The Genome Aggregation DatabaseAfricanSub8700A=0.273G=0.727
The Genome Aggregation DatabaseAmericanSub834A=0.340G=0.660
The Genome Aggregation DatabaseEast AsianSub1620A=0.286G=0.714
The Genome Aggregation DatabaseEuropeSub18476A=0.321G=0.679
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.305G=0.694
The Genome Aggregation DatabaseOtherSub300A=0.310G=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.294G=0.705
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.301G=0.699
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
rs70048840.000937alcohol dependence21314694

eQTL of rs7004884 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 rs7004884 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 )
chr8131087350131087404E067-47865
chr8131087405131087445E067-47824
chr8131087523131087613E067-47656
chr8131087721131087771E067-47498
chr8131088170131088226E067-47043
chr8131088461131088501E067-46768
chr8131089586131089669E067-45600
chr8131089725131089775E067-45494
chr8131091938131092066E067-43203
chr8131092162131092749E067-42520
chr8131106238131106556E067-28713
chr8131106822131107490E067-27779
chr8131117952131118448E067-16821
chr8131118472131119021E067-16248
chr8131119040131119185E067-16084
chr8131119220131119274E067-15995
chr8131119299131119362E067-15907
chr8131121517131121603E067-13666
chr8131121673131122164E067-13105
chr8131122223131122286E067-12983
chr8131122539131122619E067-12650
chr8131122660131123417E067-11852
chr8131123552131123606E067-11663
chr8131123932131123986E067-11283
chr8131124316131124444E067-10825
chr8131124623131124673E067-10596
chr8131124786131124900E067-10369
chr8131125190131125230E067-10039
chr8131125297131125671E067-9598
chr8131135540131135712E067271
chr8131089227131089325E068-45944
chr8131089586131089669E068-45600
chr8131089725131089775E068-45494
chr8131091938131092066E068-43203
chr8131092162131092749E068-42520
chr8131092772131092881E068-42388
chr8131093125131093369E068-41900
chr8131106238131106556E068-28713
chr8131109695131109870E068-25399
chr8131110084131110181E068-25088
chr8131110241131110341E068-24928
chr8131110404131110546E068-24723
chr8131117952131118448E068-16821
chr8131118472131119021E068-16248
chr8131119040131119185E068-16084
chr8131121517131121603E068-13666
chr8131121673131122164E068-13105
chr8131122223131122286E068-12983
chr8131122539131122619E068-12650
chr8131122660131123417E068-11852
chr8131123552131123606E068-11663
chr8131123932131123986E068-11283
chr8131124316131124444E068-10825
chr8131124623131124673E068-10596
chr8131124786131124900E068-10369
chr8131089586131089669E069-45600
chr8131089725131089775E069-45494
chr8131090014131090064E069-45205
chr8131105035131105095E069-30174
chr8131105156131105210E069-30059
chr8131106238131106556E069-28713
chr8131106822131107490E069-27779
chr8131108606131108804E069-26465
chr8131108807131109106E069-26163
chr8131109436131109627E069-25642
chr8131109695131109870E069-25399
chr8131110404131110546E069-24723
chr8131117952131118448E069-16821
chr8131118472131119021E069-16248
chr8131119040131119185E069-16084
chr8131121517131121603E069-13666
chr8131121673131122164E069-13105
chr8131122223131122286E069-12983
chr8131122539131122619E069-12650
chr8131122660131123417E069-11852
chr8131123552131123606E069-11663
chr8131123932131123986E069-11283
chr8131124316131124444E069-10825
chr8131124623131124673E069-10596
chr8131124786131124900E069-10369
chr8131135013131135154E069-115
chr8131106238131106556E070-28713
chr8131122223131122286E070-12983
chr8131122539131122619E070-12650
chr8131122660131123417E070-11852
chr8131144625131144839E0709356
chr8131144849131144996E0709580
chr8131088170131088226E071-47043
chr8131088461131088501E071-46768
chr8131089227131089325E071-45944
chr8131089586131089669E071-45600
chr8131089725131089775E071-45494
chr8131090014131090064E071-45205
chr8131091637131091870E071-43399
chr8131091938131092066E071-43203
chr8131092162131092749E071-42520
chr8131098085131098437E071-36832
chr8131098443131098792E071-36477
chr8131106238131106556E071-28713
chr8131106822131107490E071-27779
chr8131109436131109627E071-25642
chr8131109695131109870E071-25399
chr8131110084131110181E071-25088
chr8131110241131110341E071-24928
chr8131110404131110546E071-24723
chr8131117952131118448E071-16821
chr8131118472131119021E071-16248
chr8131119040131119185E071-16084
chr8131119220131119274E071-15995
chr8131119299131119362E071-15907
chr8131121517131121603E071-13666
chr8131121673131122164E071-13105
chr8131122223131122286E071-12983
chr8131122539131122619E071-12650
chr8131122660131123417E071-11852
chr8131123552131123606E071-11663
chr8131123932131123986E071-11283
chr8131124316131124444E071-10825
chr8131124623131124673E071-10596
chr8131124786131124900E071-10369
chr8131125190131125230E071-10039
chr8131125297131125671E071-9598
chr8131134309131134368E071-901
chr8131134650131134755E071-514
chr8131134814131134864E071-405
chr8131135013131135154E071-115
chr8131135540131135712E071271
chr8131086805131086898E072-48371
chr8131086920131087018E072-48251
chr8131087024131087091E072-48178
chr8131087233131087283E072-47986
chr8131087350131087404E072-47865
chr8131087405131087445E072-47824
chr8131087523131087613E072-47656
chr8131087721131087771E072-47498
chr8131089227131089325E072-45944
chr8131089586131089669E072-45600
chr8131089725131089775E072-45494
chr8131090014131090064E072-45205
chr8131091272131091446E072-43823
chr8131091637131091870E072-43399
chr8131091938131092066E072-43203
chr8131092162131092749E072-42520
chr8131098085131098437E072-36832
chr8131098443131098792E072-36477
chr8131106238131106556E072-28713
chr8131106822131107490E072-27779
chr8131109695131109870E072-25399
chr8131110084131110181E072-25088
chr8131110241131110341E072-24928
chr8131110404131110546E072-24723
chr8131117952131118448E072-16821
chr8131118472131119021E072-16248
chr8131119040131119185E072-16084
chr8131119220131119274E072-15995
chr8131119299131119362E072-15907
chr8131121517131121603E072-13666
chr8131122223131122286E072-12983
chr8131122539131122619E072-12650
chr8131122660131123417E072-11852
chr8131123552131123606E072-11663
chr8131123932131123986E072-11283
chr8131124316131124444E072-10825
chr8131124623131124673E072-10596
chr8131124786131124900E072-10369
chr8131125190131125230E072-10039
chr8131125297131125671E072-9598
chr8131089586131089669E073-45600
chr8131089725131089775E073-45494
chr8131091938131092066E073-43203
chr8131092162131092749E073-42520
chr8131093798131094115E073-41154
chr8131094281131094344E073-40925
chr8131097875131097931E073-37338
chr8131098085131098437E073-36832
chr8131098443131098792E073-36477
chr8131118472131119021E073-16248
chr8131121673131122164E073-13105
chr8131122223131122286E073-12983
chr8131122539131122619E073-12650
chr8131122660131123417E073-11852
chr8131123552131123606E073-11663
chr8131123932131123986E073-11283
chr8131124316131124444E073-10825
chr8131088170131088226E074-47043
chr8131088461131088501E074-46768
chr8131089227131089325E074-45944
chr8131089586131089669E074-45600
chr8131089725131089775E074-45494
chr8131090014131090064E074-45205
chr8131091272131091446E074-43823
chr8131091637131091870E074-43399
chr8131091938131092066E074-43203
chr8131092162131092749E074-42520
chr8131098085131098437E074-36832
chr8131106238131106556E074-28713
chr8131106822131107490E074-27779
chr8131110084131110181E074-25088
chr8131110241131110341E074-24928
chr8131110404131110546E074-24723
chr8131117952131118448E074-16821
chr8131118472131119021E074-16248
chr8131119040131119185E074-16084
chr8131119220131119274E074-15995
chr8131119299131119362E074-15907
chr8131121330131121400E074-13869
chr8131121517131121603E074-13666
chr8131121673131122164E074-13105
chr8131122223131122286E074-12983
chr8131122539131122619E074-12650
chr8131122660131123417E074-11852
chr8131123552131123606E074-11663
chr8131123932131123986E074-11283
chr8131124316131124444E074-10825
chr8131124623131124673E074-10596
chr8131124786131124900E074-10369
chr8131125190131125230E074-10039
chr8131125297131125671E074-9598
chr8131135013131135154E074-115
chr8131164330131164554E07429061
chr8131098085131098437E081-36832
chr8131098443131098792E081-36477
chr8131105390131105440E081-29829
chr8131105616131105656E081-29613
chr8131098085131098437E082-36832