rs4471836

Homo sapiens
G>A
TEX41 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0397 (11841/29794,GnomAD)
G==0405 (11814/29118,TOPMED)
G==0372 (1863/5008,1000G)
G==0334 (1289/3854,ALSPAC)
G==0331 (1228/3708,TWINSUK)
chr2:144717578 (GRCh38.p7) (2q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.144717578G>A
GRCh37.p13 chr 2NC_000002.11:g.145475145G>A

Gene: TEX41, testis expressed 41 (non-protein coding)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TEX41 transcriptNR_033870.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.600A=0.400
1000GenomesAmericanSub694G=0.270A=0.730
1000GenomesEast AsianSub1008G=0.227A=0.773
1000GenomesEuropeSub1006G=0.352A=0.648
1000GenomesGlobalStudy-wide5008G=0.372A=0.628
1000GenomesSouth AsianSub978G=0.300A=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.334A=0.666
The Genome Aggregation DatabaseAfricanSub8674G=0.553A=0.447
The Genome Aggregation DatabaseAmericanSub838G=0.230A=0.770
The Genome Aggregation DatabaseEast AsianSub1538G=0.194A=0.806
The Genome Aggregation DatabaseEuropeSub18442G=0.349A=0.650
The Genome Aggregation DatabaseGlobalStudy-wide29794G=0.397A=0.602
The Genome Aggregation DatabaseOtherSub302G=0.330A=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.405A=0.594
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.331A=0.669
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
rs44718360.000804alcohol consumption (maxi-drinks)24277619

eQTL of rs4471836 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 rs4471836 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 )
chr2145439933145440509E067-34636
chr2145440773145440906E067-34239
chr2145465725145465850E067-9295
chr2145465725145465850E068-9295
chr2145465725145465850E069-9295
chr2145466243145466529E069-8616
chr2145465725145465850E070-9295
chr2145465366145465700E071-9445
chr2145466243145466529E071-8616
chr2145465725145465850E072-9295
chr2145466243145466529E072-8616
chr2145465366145465700E074-9445
chr2145465725145465850E074-9295
chr2145466243145466529E074-8616
chr2145469196145469276E081-5869
chr2145469357145469673E081-5472
chr2145469778145470030E081-5115
chr2145465366145465700E082-9445
chr2145465725145465850E082-9295