rs939958

Homo sapiens
C>A / C>T
LOC107986860 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0290 (8687/29914,GnomAD)
C==0284 (8271/29118,TOPMED)
C==0278 (1390/5008,1000G)
C==0399 (1538/3854,ALSPAC)
C==0410 (1521/3708,TWINSUK)
chr7:150560680 (GRCh38.p7) (7q36.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.150560680C>A
GRCh38.p7 chr 7NC_000007.14:g.150560680C>T
GRCh37.p13 chr 7NC_000007.13:g.150257768C>A
GRCh37.p13 chr 7NC_000007.13:g.150257768C>T

Gene: LOC107986860, uncharacterized LOC107986860(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986860 transcriptXM_017012936.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.116A=0.884
1000GenomesAmericanSub694C=0.300A=0.700
1000GenomesEast AsianSub1008C=0.246A=0.754
1000GenomesEuropeSub1006C=0.399A=0.601
1000GenomesGlobalStudy-wide5008C=0.278A=0.722
1000GenomesSouth AsianSub978C=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.399A=0.601
The Genome Aggregation DatabaseAfricanSub8706C=0.169A=0.831
The Genome Aggregation DatabaseAmericanSub838C=0.310A=0.69,
The Genome Aggregation DatabaseEast AsianSub1612C=0.264A=0.736
The Genome Aggregation DatabaseEuropeSub18458C=0.347A=0.652
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.290A=0.709
The Genome Aggregation DatabaseOtherSub300C=0.370A=0.63,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.284A=0.715
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.410A=0.590
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
rs9399580.000803alcohol consumption (maxi-drinks)24277619

eQTL of rs939958 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 rs939958 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.