rs6836440

Homo sapiens
G>A
ADH4 : Intron Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0034 (4161/121304,ExAC)
G==0042 (1262/29978,GnomAD)
G==0044 (1280/29118,TOPMED)
A=0041 (536/13006,GO-ESP)
G==0036 (180/5008,1000G)
G==0026 (101/3854,ALSPAC)
G==0030 (110/3708,TWINSUK)
chr4:99127355 (GRCh38.p7) (4q23)
AD
GWASCatalog
4   publication(s)
See rs on genome
7 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99127355G>A
GRCh37.p13 chr 4NC_000004.11:g.100048506G>A

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
1000GenomesAfricanSub1322G=0.070A=0.930
1000GenomesAmericanSub694G=0.060A=0.940
1000GenomesEast AsianSub1008G=0.001A=0.999
1000GenomesEuropeSub1006G=0.026A=0.974
1000GenomesGlobalStudy-wide5008G=0.036A=0.964
1000GenomesSouth AsianSub978G=0.020A=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.026A=0.974
The Exome Aggregation ConsortiumAmericanSub21954G=0.068A=0.931
The Exome Aggregation ConsortiumAsianSub25160G=0.012A=0.987
The Exome Aggregation ConsortiumEuropeSub73284G=0.031A=0.968
The Exome Aggregation ConsortiumGlobalStudy-wide121304G=0.034A=0.965
The Exome Aggregation ConsortiumOtherSub906G=0.030A=0.970
The Genome Aggregation DatabaseAfricanSub8722G=0.062A=0.938
The Genome Aggregation DatabaseAmericanSub838G=0.060A=0.940
The Genome Aggregation DatabaseEast AsianSub1622G=0.001A=0.999
The Genome Aggregation DatabaseEuropeSub18494G=0.035A=0.964
The Genome Aggregation DatabaseGlobalStudy-wide29978G=0.042A=0.957
The Genome Aggregation DatabaseOtherSub302G=0.020A=0.980
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.044A=0.956
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.030A=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
21083667Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.Liu JAlcohol Clin Exp Res
18331377Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.Kuo PHAlcohol Clin Exp Res
21244703Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.Wang JHGenome Med

P-Value

SNP ID p-value Traits Study
rs68364402E-06alcohol dependence24166409

eQTL of rs6836440 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 rs6836440 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 )
chr4100006643100006704E070-41802
chr4100006873100006947E070-41559
chr4100012091100012363E071-36143
chr4100006873100006947E081-41559
chr4100007948100008019E081-40487
chr4100006643100006704E082-41802
chr4100006873100006947E082-41559




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-39556
chr4100009042100010625E067-37881
chr4100010636100011572E067-36934
chr4100008829100008950E068-39556
chr4100009042100010625E068-37881
chr4100010636100011572E068-36934
chr4100008645100008721E069-39785
chr4100008829100008950E069-39556
chr4100009042100010625E069-37881
chr4100010636100011572E069-36934
chr4100008158100008256E070-40250
chr4100008370100008613E070-39893
chr4100008645100008721E070-39785
chr4100008829100008950E070-39556
chr4100009042100010625E070-37881
chr4100010636100011572E070-36934
chr4100009042100010625E071-37881
chr4100010636100011572E071-36934
chr4100008829100008950E072-39556
chr4100009042100010625E072-37881
chr4100010636100011572E072-36934
chr4100008829100008950E073-39556
chr4100009042100010625E073-37881
chr4100010636100011572E073-36934
chr4100009042100010625E074-37881
chr4100010636100011572E074-36934
chr4100008645100008721E081-39785
chr4100008829100008950E081-39556
chr4100009042100010625E081-37881
chr4100010636100011572E081-36934
chr4100007472100007769E082-40737
chr4100008158100008256E082-40250
chr4100008370100008613E082-39893
chr4100008645100008721E082-39785
chr4100008829100008950E082-39556
chr4100009042100010625E082-37881
chr4100010636100011572E082-36934