rs4148883

Homo sapiens
T>C
ADH4 : 2KB Upstream Variant
LOC100507053 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0456 (13668/29920,GnomAD)
T==0434 (12645/29118,TOPMED)
T==0472 (2365/5008,1000G)
T==0473 (1824/3854,ALSPAC)
T==0472 (1752/3708,TWINSUK)
chr4:99145181 (GRCh38.p7) (4q23)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99145181T>C
GRCh37.p13 chr 4NC_000004.11:g.100066332T>C

Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ADH4 transcript variant 3NM_000670.4:c.N/AUpstream Transcript Variant
ADH4 transcript variant 1NM_001306171.1:c.N/AUpstream Transcript Variant
ADH4 transcript variant 2NM_001306172.1:c.N/AUpstream Transcript Variant
ADH4 transcript variant X1XM_017007713.1:c.N/AUpstream Transcript Variant
ADH4 transcript variant X2XM_017007714.1:c.N/AUpstream Transcript Variant
ADH4 transcript variant X3XM_017007715.1:c.N/AUpstream Transcript 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=0.377C=0.623
1000GenomesAmericanSub694T=0.340C=0.660
1000GenomesEast AsianSub1008T=0.734C=0.266
1000GenomesEuropeSub1006T=0.456C=0.544
1000GenomesGlobalStudy-wide5008T=0.472C=0.528
1000GenomesSouth AsianSub978T=0.440C=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.473C=0.527
The Genome Aggregation DatabaseAfricanSub8704T=0.390C=0.610
The Genome Aggregation DatabaseAmericanSub836T=0.350C=0.650
The Genome Aggregation DatabaseEast AsianSub1616T=0.737C=0.263
The Genome Aggregation DatabaseEuropeSub18462T=0.467C=0.532
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.456C=0.543
The Genome Aggregation DatabaseOtherSub302T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.434C=0.565
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.472C=0.528
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
rs41488837E-06alcohol dependence24166409

eQTL of rs4148883 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 rs4148883 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.