rs235938

Homo sapiens
T>C
LOC102724355 : Intron Variant
LOC105372759 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0350 (10460/29882,GnomAD)
T==0285 (8324/29118,TOPMED)
T==0312 (1565/5008,1000G)
T==0463 (1785/3854,ALSPAC)
T==0461 (1711/3708,TWINSUK)
chr21:27224574 (GRCh38.p7) (21q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.27224574T>C
GRCh37.p13 chr 21NC_000021.8:g.28596893T>C

Gene: LOC105372759, uncharacterized LOC105372759(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372759 transcriptXR_001755130.1:n.N/AIntron Variant

Gene: LOC102724355, uncharacterized LOC102724355(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102724355 transcript variant X2XR_430359.3:n.N/AIntron Variant
LOC102724355 transcript variant X1XR_937629.2:n.N/AIntron Variant
LOC102724355 transcript variant X3XR_937630.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.050C=0.950
1000GenomesAmericanSub694T=0.420C=0.580
1000GenomesEast AsianSub1008T=0.222C=0.778
1000GenomesEuropeSub1006T=0.460C=0.540
1000GenomesGlobalStudy-wide5008T=0.312C=0.688
1000GenomesSouth AsianSub978T=0.530C=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.463C=0.537
The Genome Aggregation DatabaseAfricanSub8720T=0.103C=0.897
The Genome Aggregation DatabaseAmericanSub836T=0.400C=0.600
The Genome Aggregation DatabaseEast AsianSub1612T=0.182C=0.818
The Genome Aggregation DatabaseEuropeSub18412T=0.479C=0.520
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.350C=0.650
The Genome Aggregation DatabaseOtherSub302T=0.340C=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.285C=0.714
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.461C=0.539
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs2359380.000516alcohol dependence24277619

eQTL of rs235938 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 rs235938 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 )
chr212864054328641519E07143650
chr212864054328641519E07443650