rs884242

Homo sapiens
C>T
LOC105378332 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0196 (5883/29952,GnomAD)
C==0173 (5044/29118,TOPMED)
C==0182 (910/5008,1000G)
C==0258 (995/3854,ALSPAC)
C==0251 (932/3708,TWINSUK)
chr10:63891019 (GRCh38.p7) (10q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.63891019C>T
GRCh37.p13 chr 10NC_000010.10:g.65650779C>T

Gene: LOC105378332, uncharacterized LOC105378332(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378332 transcript variant X2XR_001747469.1:n.N/AIntron Variant
LOC105378332 transcript variant X1XR_001747470.1:n.N/AIntron Variant
LOC105378332 transcript variant X4XR_001747471.1:n.N/AIntron Variant
LOC105378332 transcript variant X5XR_001747472.1:n.N/AIntron Variant
LOC105378332 transcript variant X3XR_946009.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.085T=0.915
1000GenomesAmericanSub694C=0.120T=0.880
1000GenomesEast AsianSub1008C=0.187T=0.813
1000GenomesEuropeSub1006C=0.224T=0.776
1000GenomesGlobalStudy-wide5008C=0.182T=0.818
1000GenomesSouth AsianSub978C=0.300T=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.258T=0.742
The Genome Aggregation DatabaseAfricanSub8722C=0.116T=0.884
The Genome Aggregation DatabaseAmericanSub838C=0.110T=0.890
The Genome Aggregation DatabaseEast AsianSub1618C=0.196T=0.804
The Genome Aggregation DatabaseEuropeSub18472C=0.239T=0.760
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.196T=0.803
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.173T=0.826
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.251T=0.749
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
rs8842420.000315alcohol dependence24277619

eQTL of rs884242 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 rs884242 in Fetal Brain

Probe ID Position Gene beta p-value
cg15907060chr10:65647212-0.06099649244342349.4336e-12

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 )
chr106565015665650230E067-549
chr106567044365671085E06819664
chr106562563765627021E069-23758
chr106567664265676689E07025863
chr106567689865677511E07026119
chr106568065365681019E07029874
chr106568113465681206E07030355
chr106568122065681294E07030441
chr106568279265682853E07032013
chr106568285865682908E07032079
chr106565015665650230E071-549
chr106567689865677511E07126119
chr106568199665682130E07231217
chr106568214765682683E07231368
chr106568279265682853E07232013
chr106562563765627021E073-23758
chr106562563765627021E074-23758
chr106567689865677511E07426119
chr106562563765627021E081-23758
chr106564893465649023E081-1756
chr106564908065649193E081-1586
chr106564929665649385E081-1394
chr106565015665650230E081-549
chr106565148265651648E081703
chr106563100065631458E082-19321
chr106566146665661608E08210687
chr106566160965661691E08210830
chr106566185765661990E08211078
chr106568044265680595E08229663
chr106568065365681019E08229874
chr106568214765682683E08231368
chr106568279265682853E08232013
chr106568285865682908E08232079
chr106568295265683002E08232173