rs4598563

Homo sapiens
A>G
LOC105376463 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0331 (9912/29938,GnomAD)
G=0324 (9454/29118,TOPMED)
G=0351 (1759/5008,1000G)
G=0300 (1155/3854,ALSPAC)
G=0295 (1093/3708,TWINSUK)
chr10:27576644 (GRCh38.p7) (10p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.27576644A>G
GRCh37.p13 chr 10NC_000010.10:g.27865573A>G

Gene: LOC105376463, uncharacterized LOC105376463(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376463 transcript variant X1XR_001747398.1:n.N/AIntron Variant
LOC105376463 transcript variant X2XR_001747399.1:n.N/AIntron Variant
LOC105376463 transcript variant X4XR_001747400.1:n.N/AIntron Variant
LOC105376463 transcript variant X3XR_930766.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.658G=0.342
1000GenomesAmericanSub694A=0.700G=0.300
1000GenomesEast AsianSub1008A=0.514G=0.486
1000GenomesEuropeSub1006A=0.663G=0.337
1000GenomesGlobalStudy-wide5008A=0.649G=0.351
1000GenomesSouth AsianSub978A=0.720G=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.700G=0.300
The Genome Aggregation DatabaseAfricanSub8708A=0.673G=0.327
The Genome Aggregation DatabaseAmericanSub838A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1606A=0.549G=0.451
The Genome Aggregation DatabaseEuropeSub18484A=0.675G=0.324
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.668G=0.331
The Genome Aggregation DatabaseOtherSub302A=0.710G=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.675G=0.324
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.705G=0.295
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
rs45985630.000439alcohol consumption (maxi-drinks)24277619

eQTL of rs4598563 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 rs4598563 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 )
chr102781723727817401E067-48172
chr102781750227817563E067-48010
chr102781756527817842E067-47731
chr102781785727817901E067-47672
chr102781723727817401E069-48172
chr102781750227817563E069-48010
chr102781756527817842E069-47731
chr102782632627826376E069-39197
chr102782687427826996E069-38577
chr102791420327914401E07048630
chr102791444527914597E07048872
chr102791462027915495E07049047
chr102781723727817401E071-48172
chr102781750227817563E071-48010
chr102782549227825654E071-39919
chr102782570527825785E071-39788
chr102790902427909229E07143451
chr102790938727910809E07243814
chr102782687427826996E074-38577
chr102791462027915495E08149047
chr102791420327914401E08248630
chr102791444527914597E08248872
chr102791462027915495E08249047