rs10496968

Homo sapiens
C>T
TEX41 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0397 (11886/29882,GnomAD)
C==0410 (11952/29118,TOPMED)
C==0377 (1887/5008,1000G)
C==0332 (1280/3854,ALSPAC)
C==0337 (1251/3708,TWINSUK)
chr2:144766679 (GRCh38.p7) (2q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.144766679C>T
GRCh37.p13 chr 2NC_000002.11:g.145524246C>T

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
1000GenomesAfricanSub1322C=0.601T=0.399
1000GenomesAmericanSub694C=0.280T=0.720
1000GenomesEast AsianSub1008C=0.227T=0.773
1000GenomesEuropeSub1006C=0.357T=0.643
1000GenomesGlobalStudy-wide5008C=0.377T=0.623
1000GenomesSouth AsianSub978C=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.332T=0.668
The Genome Aggregation DatabaseAfricanSub8714C=0.554T=0.446
The Genome Aggregation DatabaseAmericanSub836C=0.230T=0.770
The Genome Aggregation DatabaseEast AsianSub1564C=0.197T=0.803
The Genome Aggregation DatabaseEuropeSub18466C=0.349T=0.650
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.397T=0.602
The Genome Aggregation DatabaseOtherSub302C=0.370T=0.630
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.410T=0.589
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.337T=0.663
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
rs104969680.000798alcohol consumption (maxi-drinks)24277619

eQTL of rs10496968 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 rs10496968 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 )
chr2145528417145529210E0674171
chr2145533155145533236E0688909
chr2145533386145534023E0689140
chr2145553727145553781E06829481
chr2145528417145529210E0704171
chr2145528417145529210E0714171
chr2145528417145529210E0744171
chr2145555477145556040E08231231