rs3761442

Homo sapiens
C>T
GGA1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0103 (3089/29946,GnomAD)
T=0140 (4088/29114,TOPMED)
T=0134 (672/5008,1000G)
T=0015 (59/3854,ALSPAC)
T=0022 (83/3708,TWINSUK)
chr22:37607063 (GRCh38.p7) (22q13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
210 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.37607063C>T
GRCh37.p13 chr 22NC_000022.10:g.38003070C>T

Gene: GGA1, golgi-associated, gamma adaptin ear containing, ARF binding protein 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
GGA1 transcript variant 2NM_001001560.2:c.N/AUpstream Transcript Variant
GGA1 transcript variant 4NM_001172687.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant 5NM_001172688.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant 1NM_013365.4:c.N/AUpstream Transcript Variant
GGA1 transcript variant X1XM_005261517.3:c.N/AUpstream Transcript Variant
GGA1 transcript variant X5XM_005261518.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X7XM_006724229.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X2XM_011530122.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X3XM_011530123.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X6XM_011530124.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X4XM_017028760.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X10XM_017028762.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X11XM_017028763.1:c.N/AUpstream Transcript Variant
GGA1 transcript variant X6XM_005261520.1:c.N/AN/A
GGA1 transcript variant X13XM_005261522.1:c.N/AN/A
GGA1 transcript variant X5XM_017028761.1:c.N/AN/A
GGA1 transcript variant X12XM_017028764.1:c.N/AN/A
GGA1 transcript variant X14XM_017028765.1:c.N/AN/A
GGA1 transcript variant X13XR_001755208.1:n.N/AUpstream Transcript Variant
GGA1 transcript variant X16XR_001755210.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.704T=0.296
1000GenomesAmericanSub694C=0.920T=0.080
1000GenomesEast AsianSub1008C=0.833T=0.167
1000GenomesEuropeSub1006C=0.982T=0.018
1000GenomesGlobalStudy-wide5008C=0.866T=0.134
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.985T=0.015
The Genome Aggregation DatabaseAfricanSub8702C=0.724T=0.276
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1616C=0.822T=0.178
The Genome Aggregation DatabaseEuropeSub18488C=0.982T=0.017
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.896T=0.103
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.859T=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.978T=0.022
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs37614420.000391alcohol consumption (maxi-drinks)24277619

eQTL of rs3761442 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 rs3761442 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 )
chr223795903837959143E067-43927
chr223796108237961156E067-41914
chr223796124737961378E067-41692
chr223796147237961548E067-41522
chr223796160537961675E067-41395
chr223796169837961748E067-41322
chr223796187337963950E067-39120
chr223796398737964073E067-38997
chr223796407837964336E067-38734
chr223796452037964602E067-38468
chr223796464237964692E067-38378
chr223796478037967001E067-36069
chr223796701737967818E067-35252
chr223798815537988221E067-14849
chr223798822937988977E067-14093
chr223799496237995527E067-7543
chr223800657638007839E0673506
chr223802189738022833E06718827
chr223802874138031253E06725671
chr223803127138031365E06728201
chr223803138838031523E06728318
chr223796108237961156E068-41914
chr223796124737961378E068-41692
chr223796147237961548E068-41522
chr223796160537961675E068-41395
chr223796169837961748E068-41322
chr223796187337963950E068-39120
chr223796398737964073E068-38997
chr223796407837964336E068-38734
chr223796452037964602E068-38468
chr223796464237964692E068-38378
chr223796478037967001E068-36069
chr223796701737967818E068-35252
chr223799481437994895E068-8175
chr223799496237995527E068-7543
chr223800657638007839E0683506
chr223801929138020339E06816221
chr223802160438021865E06818534
chr223802189738022833E06818827
chr223802286638022971E06819796
chr223802315138024250E06820081
chr223802862738028715E06825557
chr223802874138031253E06825671
chr223803884638040024E06835776
chr223795903837959143E069-43927
chr223796108237961156E069-41914
chr223796124737961378E069-41692
chr223796147237961548E069-41522
chr223796160537961675E069-41395
chr223796169837961748E069-41322
chr223796187337963950E069-39120
chr223796398737964073E069-38997
chr223796407837964336E069-38734
chr223796452037964602E069-38468
chr223796464237964692E069-38378
chr223796478037967001E069-36069
chr223796701737967818E069-35252
chr223796783737967960E069-35110
chr223799496237995527E069-7543
chr223800657638007839E0693506
chr223801929138020339E06916221
chr223802315138024250E06920081
chr223802874138031253E06925671
chr223803127138031365E06928201
chr223803138838031523E06928318
chr223803161138031666E06928541
chr223803194338032008E06928873
chr223803222538033240E06929155
chr223803387238033984E06930802
chr223803884638040024E06935776
chr223798455537984627E070-18443
chr223798463037984890E070-18180
chr223798490837985102E070-17968
chr223798518737985237E070-17833
chr223798533537985405E070-17665
chr223798546837985592E070-17478
chr223798569837986003E070-17067
chr223798613737986237E070-16833
chr223798641737986762E070-16308
chr223798822937988977E070-14093
chr223800657638007839E0703506
chr223803127138031365E07028201
chr223803138838031523E07028318
chr223795467937954821E071-48249
chr223795484437954909E071-48161
chr223795493537955199E071-47871
chr223795529337955416E071-47654
chr223796108237961156E071-41914
chr223796124737961378E071-41692
chr223796147237961548E071-41522
chr223796160537961675E071-41395
chr223796169837961748E071-41322
chr223796398737964073E071-38997
chr223796407837964336E071-38734
chr223796452037964602E071-38468
chr223796464237964692E071-38378
chr223796478037967001E071-36069
chr223796701737967818E071-35252
chr223796783737967960E071-35110
chr223798815537988221E071-14849
chr223798822937988977E071-14093
chr223799496237995527E071-7543
chr223799728537998346E071-4724
chr223800657638007839E0713506
chr223801929138020339E07116221
chr223802100938021300E07117939
chr223802133838021399E07118268
chr223802153538021579E07118465
chr223802160438021865E07118534
chr223802189738022833E07118827
chr223802286638022971E07119796
chr223802315138024250E07120081
chr223802862738028715E07125557
chr223802874138031253E07125671
chr223803222538033240E07129155
chr223803333238033503E07130262
chr223803355438033624E07130484
chr223795467937954821E072-48249
chr223795484437954909E072-48161
chr223795493537955199E072-47871
chr223795529337955416E072-47654
chr223796108237961156E072-41914
chr223796124737961378E072-41692
chr223796147237961548E072-41522
chr223796160537961675E072-41395
chr223796169837961748E072-41322
chr223796187337963950E072-39120
chr223796398737964073E072-38997
chr223796407837964336E072-38734
chr223796452037964602E072-38468
chr223796464237964692E072-38378
chr223796478037967001E072-36069
chr223796701737967818E072-35252
chr223798795437988118E072-14952
chr223798815537988221E072-14849
chr223798822937988977E072-14093
chr223799496237995527E072-7543
chr223800657638007839E0723506
chr223802070238020871E07217632
chr223802090038020992E07217830
chr223802100938021300E07217939
chr223802133838021399E07218268
chr223802153538021579E07218465
chr223802160438021865E07218534
chr223802189738022833E07218827
chr223802286638022971E07219796
chr223802874138031253E07225671
chr223803127138031365E07228201
chr223803138838031523E07228318
chr223803222538033240E07229155
chr223803884638040024E07235776
chr223795903837959143E073-43927
chr223795915137960771E073-42299
chr223796147237961548E073-41522
chr223796160537961675E073-41395
chr223796169837961748E073-41322
chr223796187337963950E073-39120
chr223796398737964073E073-38997
chr223796407837964336E073-38734
chr223796478037967001E073-36069
chr223800657638007839E0733506
chr223800937538009463E0736305
chr223800967138010449E0736601
chr223801929138020339E07316221
chr223802100938021300E07317939
chr223802133838021399E07318268
chr223802153538021579E07318465
chr223802160438021865E07318534
chr223802189738022833E07318827
chr223802315138024250E07320081
chr223802862738028715E07325557
chr223802874138031253E07325671
chr223803127138031365E07328201
chr223803138838031523E07328318
chr223803884638040024E07335776
chr223795467937954821E074-48249
chr223795484437954909E074-48161
chr223795493537955199E074-47871
chr223795529337955416E074-47654
chr223795859837959030E074-44040
chr223795903837959143E074-43927
chr223796108237961156E074-41914
chr223796124737961378E074-41692
chr223796147237961548E074-41522
chr223796160537961675E074-41395
chr223796169837961748E074-41322
chr223796187337963950E074-39120
chr223796398737964073E074-38997
chr223796407837964336E074-38734
chr223796452037964602E074-38468
chr223796464237964692E074-38378
chr223796478037967001E074-36069
chr223796701737967818E074-35252
chr223798822937988977E074-14093
chr223799496237995527E074-7543
chr223800657638007839E0743506
chr223802153538021579E07418465
chr223802160438021865E07418534
chr223802189738022833E07418827
chr223802286638022971E07419796
chr223802874138031253E07425671
chr223803884638040024E07435776
chr223798815537988221E081-14849
chr223798822937988977E081-14093
chr223799270537992748E081-10322
chr223800657638007839E0813506
chr223802874138031253E08125671
chr223803127138031365E08128201
chr223803138838031523E08128318
chr223803884638040024E08135776









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr223795549137958425E067-44645
chr223800289938006355E0670
chr223795549137958425E068-44645
chr223800289938006355E0680
chr223795549137958425E069-44645
chr223800289938006355E0690
chr223800289938006355E0700
chr223795549137958425E071-44645
chr223800289938006355E0710
chr223795549137958425E072-44645
chr223800289938006355E0720
chr223795549137958425E073-44645
chr223800289938006355E0730
chr223795549137958425E074-44645
chr223800289938006355E0740
chr223800289938006355E0810
chr223795549137958425E082-44645
chr223800289938006355E0820