rs1229978

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0333 (9974/29902,GnomAD)
C=0261 (7619/29118,TOPMED)
C=0214 (1073/5008,1000G)
C=0398 (1535/3854,ALSPAC)
C=0411 (1524/3708,TWINSUK)
chr4:99335042 (GRCh38.p7) (4q23)
AD
GWASCatalog
2   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99335042T>C
GRCh37.p13 chr 4NC_000004.11:g.100256199T>C
ADH1C RefSeqGeneNG_011718.1:g.22719A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.901C=0.099
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.925C=0.075
1000GenomesEuropeSub1006T=0.594C=0.406
1000GenomesGlobalStudy-wide5008T=0.786C=0.214
1000GenomesSouth AsianSub978T=0.720C=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.602C=0.398
The Genome Aggregation DatabaseAfricanSub8716T=0.855C=0.145
The Genome Aggregation DatabaseAmericanSub836T=0.680C=0.320
The Genome Aggregation DatabaseEast AsianSub1608T=0.913C=0.087
The Genome Aggregation DatabaseEuropeSub18442T=0.554C=0.446
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.666C=0.333
The Genome Aggregation DatabaseOtherSub300T=0.750C=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.738C=0.261
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.589C=0.411
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
20089146The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.Peng YBMC Evol Biol

P-Value

SNP ID p-value Traits Study
rs12299785E-06alcohol dependence24166409

eQTL of rs1229978 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 rs1229978 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 )
chr4100245602100245886E068-10313
chr4100221669100221897E070-34302
chr4100244954100245162E073-11037
chr4100245344100245493E073-10706
chr4100221669100221897E082-34302
chr4100222048100222444E082-33755