rs3747193

Homo sapiens
G>T
A4GALT : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0125 (3738/29792,GnomAD)
T=0087 (2537/29114,TOPMED)
T=0219 (1098/5008,1000G)
T=0103 (397/3854,ALSPAC)
T=0096 (355/3708,TWINSUK)
chr22:42692457 (GRCh38.p7) (22q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.42692457G>T
GRCh37.p13 chr 22NC_000022.10:g.43088463G>T
A4GALT RefSeqGeneNG_007495.1:g.33414C>A

Gene: A4GALT, alpha 1,4-galactosyltransferase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
A4GALT transcript variant 1NM_017436.5:c.N/A3 Prime UTR Variant
A4GALT transcript variant 2NM_001318038.1:c.N/A3 Prime UTR Variant
A4GALT transcript variant X1XM_006724265.3:c.N/A3 Prime UTR Variant
A4GALT transcript variant X2XM_006724266.3:c.N/A3 Prime UTR Variant
A4GALT transcript variant X3XM_005261644.2:c.N/A3 Prime UTR Variant
A4GALT transcript variant X4XM_005261647.2:c.N/A3 Prime UTR Variant
A4GALT transcript variant X5XM_005261648.3:c.N/A3 Prime UTR Variant
A4GALT transcript variant X6XM_005261646.4:c.N/A3 Prime UTR Variant
A4GALT transcript variant X7XM_011530233.2:c.N/A3 Prime UTR Variant
A4GALT transcript variant X8XM_017028831.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.947T=0.053
1000GenomesAmericanSub694G=0.850T=0.150
1000GenomesEast AsianSub1008G=0.427T=0.573
1000GenomesEuropeSub1006G=0.901T=0.099
1000GenomesGlobalStudy-wide5008G=0.781T=0.219
1000GenomesSouth AsianSub978G=0.750T=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.897T=0.103
The Genome Aggregation DatabaseAfricanSub8698G=0.950T=0.050
The Genome Aggregation DatabaseAmericanSub838G=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1596G=0.427T=0.573
The Genome Aggregation DatabaseEuropeSub18358G=0.876T=0.123
The Genome Aggregation DatabaseGlobalStudy-wide29792G=0.874T=0.125
The Genome Aggregation DatabaseOtherSub302G=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.912T=0.087
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.904T=0.096
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs37471930.00015alcohol dependence(early age of onset)20201924
rs37471930.00094alcohol dependence20201924

eQTL of rs3747193 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 rs3747193 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 )
chr224303881243039344E067-49119
chr224303937343039467E067-48996
chr224303947143039716E067-48747
chr224303972643040119E067-48344
chr224304015343043463E067-45000
chr224307931243080258E067-8205
chr224308026243080527E067-7936
chr224308054643080618E067-7845
chr224308065843080812E067-7651
chr224308083643081082E067-7381
chr224303881243039344E068-49119
chr224303937343039467E068-48996
chr224303947143039716E068-48747
chr224303972643040119E068-48344
chr224304015343043463E068-45000
chr224307931243080258E068-8205
chr224308026243080527E068-7936
chr224308054643080618E068-7845
chr224308065843080812E068-7651
chr224308182243081872E068-6591
chr224308192943083447E068-5016
chr224308363543085260E068-3203
chr224309103843091089E0682575
chr224309123743091329E0682774
chr224309140643091672E0682943
chr224311773443117834E06829271
chr224303881243039344E069-49119
chr224303937343039467E069-48996
chr224303947143039716E069-48747
chr224303972643040119E069-48344
chr224304015343043463E069-45000
chr224305778243057871E069-30592
chr224306982443070500E069-17963
chr224307916443079267E069-9196
chr224307931243080258E069-8205
chr224308026243080527E069-7936
chr224308054643080618E069-7845
chr224308065843080812E069-7651
chr224303972643040119E070-48344
chr224304015343043463E070-45000
chr224308192943083447E070-5016
chr224308363543085260E070-3203
chr224303881243039344E071-49119
chr224303937343039467E071-48996
chr224303947143039716E071-48747
chr224303972643040119E071-48344
chr224305778243057871E071-30592
chr224306982443070500E071-17963
chr224307931243080258E071-8205
chr224308026243080527E071-7936
chr224308054643080618E071-7845
chr224308065843080812E071-7651
chr224308192943083447E071-5016
chr224308718643087236E071-1227
chr224308727543087351E071-1112
chr224308747543087628E071-835
chr224303937343039467E072-48996
chr224303947143039716E072-48747
chr224303972643040119E072-48344
chr224304015343043463E072-45000
chr224307931243080258E072-8205
chr224308026243080527E072-7936
chr224308054643080618E072-7845
chr224308065843080812E072-7651
chr224308083643081082E072-7381
chr224309103843091089E0722575
chr224309123743091329E0722774
chr224309140643091672E0722943
chr224309896843099018E07210505
chr224309906043099120E07210597
chr224303881243039344E073-49119
chr224303937343039467E073-48996
chr224303947143039716E073-48747
chr224303972643040119E073-48344
chr224304015343043463E073-45000
chr224306719843067309E073-21154
chr224306734743067779E073-20684
chr224306982443070500E073-17963
chr224307931243080258E073-8205
chr224308026243080527E073-7936
chr224308054643080618E073-7845
chr224308065843080812E073-7651
chr224308192943083447E073-5016
chr224308363543085260E073-3203
chr224309103843091089E0732575
chr224309123743091329E0732774
chr224303947143039716E074-48747
chr224303972643040119E074-48344
chr224304015343043463E074-45000
chr224306982443070500E074-17963
chr224307931243080258E074-8205
chr224308026243080527E074-7936
chr224308054643080618E074-7845
chr224308065843080812E074-7651
chr224308083643081082E074-7381
chr224308727543087351E074-1112
chr224304015343043463E081-45000
chr224305778243057871E082-30592










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr224304384743046047E067-42416
chr224304384743046047E068-42416
chr224304608443046350E068-42113
chr224311501743117629E06826554
chr224304384743046047E069-42416
chr224304608443046350E069-42113
chr224305796043059050E069-29413
chr224311501743117629E06926554
chr224304384743046047E070-42416
chr224304608443046350E070-42113
chr224304384743046047E071-42416
chr224304608443046350E071-42113
chr224305796043059050E071-29413
chr224311501743117629E07126554
chr224304384743046047E072-42416
chr224304608443046350E072-42113
chr224305796043059050E072-29413
chr224311501743117629E07226554
chr224304384743046047E073-42416
chr224304608443046350E073-42113
chr224305796043059050E073-29413
chr224311501743117629E07326554
chr224304384743046047E074-42416
chr224304608443046350E074-42113
chr224311501743117629E07426554
chr224304384743046047E082-42416
chr224304608443046350E082-42113
chr224305796043059050E082-29413