rs7448843

Homo sapiens
A>C / A>T
LOC105379117 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0334 (10010/29894,GnomAD)
C=0293 (8543/29118,TOPMED)
C=0354 (1773/5008,1000G)
C=0349 (1345/3854,ALSPAC)
C=0354 (1314/3708,TWINSUK)
chr5:109508233 (GRCh38.p7) (5q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.109508233A>C
GRCh38.p7 chr 5NC_000005.10:g.109508233A>T
GRCh37.p13 chr 5NC_000005.9:g.108843934A>C
GRCh37.p13 chr 5NC_000005.9:g.108843934A>T

Gene: LOC105379117, uncharacterized LOC105379117(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379117 transcript variant X2XR_001742838.1:n.N/AIntron Variant
LOC105379117 transcript variant X1XR_948660.2:n.N/AIntron Variant
LOC105379117 transcript variant X3XR_948661.2:n.N/AGenic Downstream Transcript Variant
LOC105379117 transcript variant X4XR_948662.2:n.N/AGenic Downstream Transcript Variant
LOC105379117 transcript variant X5XR_948664.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.907C=0.093
1000GenomesAmericanSub694A=0.510C=0.490
1000GenomesEast AsianSub1008A=0.482C=0.518
1000GenomesEuropeSub1006A=0.573C=0.427
1000GenomesGlobalStudy-wide5008A=0.646C=0.354
1000GenomesSouth AsianSub978A=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.651C=0.349
The Genome Aggregation DatabaseAfricanSub8710A=0.864C=0.136
The Genome Aggregation DatabaseAmericanSub836A=0.500C=0.50,
The Genome Aggregation DatabaseEast AsianSub1604A=0.463C=0.537
The Genome Aggregation DatabaseEuropeSub18442A=0.598C=0.401
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.665C=0.334
The Genome Aggregation DatabaseOtherSub302A=0.570C=0.43,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.706C=0.293
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.646C=0.354
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
rs74488430.000641alcohol dependence24277619

eQTL of rs7448843 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 rs7448843 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.