rs10488945

Homo sapiens
T>G
LOC105374482 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0276 (8279/29960,GnomAD)
T==0300 (8740/29118,TOPMED)
T==0355 (1780/5008,1000G)
T==0193 (744/3854,ALSPAC)
T==0194 (718/3708,TWINSUK)
chr4:10488654 (GRCh38.p7) (4p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.10488654T>G
GRCh37.p13 chr 4NC_000004.11:g.10490278T>G

Gene: LOC105374482, uncharacterized LOC105374482(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374482 transcript variant X1XR_925387.2:n.257...XR_925387.2:n.2577T>GT>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.414G=0.586
1000GenomesAmericanSub694T=0.330G=0.670
1000GenomesEast AsianSub1008T=0.381G=0.619
1000GenomesEuropeSub1006T=0.219G=0.781
1000GenomesGlobalStudy-wide5008T=0.355G=0.645
1000GenomesSouth AsianSub978T=0.410G=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.193G=0.807
The Genome Aggregation DatabaseAfricanSub8714T=0.382G=0.618
The Genome Aggregation DatabaseAmericanSub838T=0.300G=0.700
The Genome Aggregation DatabaseEast AsianSub1618T=0.360G=0.640
The Genome Aggregation DatabaseEuropeSub18488T=0.218G=0.781
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.276G=0.723
The Genome Aggregation DatabaseOtherSub302T=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.300G=0.699
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.194G=0.806
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
rs104889450.000369alcohol consumption (maxi-drinks)24277619

eQTL of rs10488945 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 rs10488945 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 )
chr41045691110457063E071-33215

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr41045790910459674E067-30604
chr41046273810463512E067-26766
chr41045790910459674E068-30604
chr41045790910459674E069-30604
chr41046273810463512E069-26766
chr41045790910459674E070-30604
chr41046273810463512E070-26766
chr41045790910459674E071-30604
chr41046273810463512E071-26766
chr41045790910459674E072-30604
chr41046273810463512E072-26766
chr41045790910459674E073-30604
chr41046273810463512E073-26766
chr41045790910459674E074-30604
chr41046273810463512E074-26766
chr41045790910459674E081-30604
chr41046361410463728E081-26550
chr41045790910459674E082-30604
chr41046273810463512E082-26766
chr41046361410463728E082-26550
chr41046374110463829E082-26449