rs1573495

Homo sapiens
T>C
ADH4 : Intron Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0042 (1261/29968,GnomAD)
T==0044 (1280/29118,TOPMED)
T==0036 (180/5008,1000G)
T==0026 (101/3854,ALSPAC)
T==0030 (110/3708,TWINSUK)
chr4:99125534 (GRCh38.p7) (4q23)
AD
GWASCatalog
2   publication(s)
See rs on genome
7 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99125534T>C
GRCh37.p13 chr 4NC_000004.11:g.100046685T>C

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH4 transcript variant 3NM_000670.4:c.N/AIntron Variant
ADH4 transcript variant 1NM_001306171.1:c.N/AIntron Variant
ADH4 transcript variant 2NM_001306172.1:c.N/AIntron Variant
ADH4 transcript variant X1XM_017007713.1:c.N/AIntron Variant
ADH4 transcript variant X2XM_017007714.1:c.N/AIntron Variant
ADH4 transcript variant X3XM_017007715.1:c.N/AIntron Variant

Gene: LOC100507053, uncharacterized LOC100507053(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100507053 transcriptNR_037884.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.070C=0.930
1000GenomesAmericanSub694T=0.060C=0.940
1000GenomesEast AsianSub1008T=0.001C=0.999
1000GenomesEuropeSub1006T=0.026C=0.974
1000GenomesGlobalStudy-wide5008T=0.036C=0.964
1000GenomesSouth AsianSub978T=0.020C=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.026C=0.974
The Genome Aggregation DatabaseAfricanSub8712T=0.062C=0.938
The Genome Aggregation DatabaseAmericanSub838T=0.060C=0.940
The Genome Aggregation DatabaseEast AsianSub1622T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18494T=0.035C=0.964
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.042C=0.957
The Genome Aggregation DatabaseOtherSub302T=0.020C=0.980
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.044C=0.956
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.030C=0.970
PMID Title Author Journal
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs15734952E-06alcohol dependence24166409

eQTL of rs1573495 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 rs1573495 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 )
chr4100006643100006704E070-39981
chr4100006873100006947E070-39738
chr4100012091100012363E071-34322
chr4100006873100006947E081-39738
chr4100007948100008019E081-38666
chr4100006643100006704E082-39981
chr4100006873100006947E082-39738




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-37735
chr4100009042100010625E067-36060
chr4100010636100011572E067-35113
chr4100008829100008950E068-37735
chr4100009042100010625E068-36060
chr4100010636100011572E068-35113
chr4100008645100008721E069-37964
chr4100008829100008950E069-37735
chr4100009042100010625E069-36060
chr4100010636100011572E069-35113
chr4100008158100008256E070-38429
chr4100008370100008613E070-38072
chr4100008645100008721E070-37964
chr4100008829100008950E070-37735
chr4100009042100010625E070-36060
chr4100010636100011572E070-35113
chr4100009042100010625E071-36060
chr4100010636100011572E071-35113
chr4100008829100008950E072-37735
chr4100009042100010625E072-36060
chr4100010636100011572E072-35113
chr4100008829100008950E073-37735
chr4100009042100010625E073-36060
chr4100010636100011572E073-35113
chr4100009042100010625E074-36060
chr4100010636100011572E074-35113
chr4100008645100008721E081-37964
chr4100008829100008950E081-37735
chr4100009042100010625E081-36060
chr4100010636100011572E081-35113
chr4100007472100007769E082-38916
chr4100008158100008256E082-38429
chr4100008370100008613E082-38072
chr4100008645100008721E082-37964
chr4100008829100008950E082-37735
chr4100009042100010625E082-36060
chr4100010636100011572E082-35113