rs6822348

Homo sapiens
A>T
ADH4 : Intron Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0256 (7670/29912,GnomAD)
A==0243 (7086/29118,TOPMED)
A==0152 (763/5008,1000G)
A==0300 (1156/3854,ALSPAC)
A==0309 (1144/3708,TWINSUK)
chr4:99132743 (GRCh38.p7) (4q23)
AD
GWASCatalog
1   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.99132743A>T
GRCh37.p13 chr 4NC_000004.11:g.100053894A>T

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
1000GenomesAfricanSub1322A=0.138T=0.862
1000GenomesAmericanSub694A=0.230T=0.770
1000GenomesEast AsianSub1008A=0.001T=0.999
1000GenomesEuropeSub1006A=0.303T=0.697
1000GenomesGlobalStudy-wide5008A=0.152T=0.848
1000GenomesSouth AsianSub978A=0.120T=0.880
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.300T=0.700
The Genome Aggregation DatabaseAfricanSub8714A=0.175T=0.825
The Genome Aggregation DatabaseAmericanSub834A=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1618A=0.002T=0.998
The Genome Aggregation DatabaseEuropeSub18444A=0.316T=0.683
The Genome Aggregation DatabaseGlobalStudy-wide29912A=0.256T=0.743
The Genome Aggregation DatabaseOtherSub302A=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.243T=0.756
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.309T=0.691
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

P-Value

SNP ID p-value Traits Study
rs68223483E-06alcohol dependence24166409

eQTL of rs6822348 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 rs6822348 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 )
chr4100006643100006704E070-47190
chr4100006873100006947E070-46947
chr4100012091100012363E071-41531
chr4100006873100006947E081-46947
chr4100007948100008019E081-45875
chr4100006643100006704E082-47190
chr4100006873100006947E082-46947




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4100008829100008950E067-44944
chr4100009042100010625E067-43269
chr4100010636100011572E067-42322
chr4100008829100008950E068-44944
chr4100009042100010625E068-43269
chr4100010636100011572E068-42322
chr4100008645100008721E069-45173
chr4100008829100008950E069-44944
chr4100009042100010625E069-43269
chr4100010636100011572E069-42322
chr4100008158100008256E070-45638
chr4100008370100008613E070-45281
chr4100008645100008721E070-45173
chr4100008829100008950E070-44944
chr4100009042100010625E070-43269
chr4100010636100011572E070-42322
chr4100009042100010625E071-43269
chr4100010636100011572E071-42322
chr4100008829100008950E072-44944
chr4100009042100010625E072-43269
chr4100010636100011572E072-42322
chr4100008829100008950E073-44944
chr4100009042100010625E073-43269
chr4100010636100011572E073-42322
chr4100009042100010625E074-43269
chr4100010636100011572E074-42322
chr4100008645100008721E081-45173
chr4100008829100008950E081-44944
chr4100009042100010625E081-43269
chr4100010636100011572E081-42322
chr4100007472100007769E082-46125
chr4100008158100008256E082-45638
chr4100008370100008613E082-45281
chr4100008645100008721E082-45173
chr4100008829100008950E082-44944
chr4100009042100010625E082-43269
chr4100010636100011572E082-42322