rs7255207

Homo sapiens
C>T
LOC105372347 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0425 (12720/29884,GnomAD)
T=0378 (11030/29118,TOPMED)
T=0415 (2079/5008,1000G)
C==0490 (1888/3854,ALSPAC)
C==0497 (1844/3708,TWINSUK)
chr19:27895015 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27895015C>T
GRCh37.p13 chr 19NC_000019.9:g.28385923C>T

Gene: LOC105372347, uncharacterized LOC105372347(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372347 transcriptXR_001753886.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.801T=0.199
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.451T=0.549
1000GenomesEuropeSub1006C=0.487T=0.513
1000GenomesGlobalStudy-wide5008C=0.585T=0.415
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.490T=0.510
The Genome Aggregation DatabaseAfricanSub8716C=0.751T=0.249
The Genome Aggregation DatabaseAmericanSub838C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1608C=0.422T=0.578
The Genome Aggregation DatabaseEuropeSub18424C=0.509T=0.490
The Genome Aggregation DatabaseGlobalStudy-wide29884C=0.574T=0.425
The Genome Aggregation DatabaseOtherSub298C=0.510T=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.621T=0.378
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.497T=0.503
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
rs72552070.000716alcohol consumption (maxi-drinks)24277619

eQTL of rs7255207 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:28385923CTC-459F4.1ENSG00000261770.1C>T1.0000e-28134166Cerebellum
Chr19:28385923CTC-459F4.6ENSG00000267264.1C>T1.9152e-891477Cerebellum

meQTL of rs7255207 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 )
chr192839590628395983E0679983
chr192839623828396327E06710315
chr192839660028397548E06710677
chr192839590628395983E0689983
chr192839623828396327E06810315
chr192839660028397548E06810677
chr192839660028397548E06910677
chr192839590628395983E0719983
chr192839623828396327E07110315
chr192839660028397548E07110677
chr192839623828396327E07210315
chr192839660028397548E07210677
chr192839623828396327E07310315
chr192839623828396327E07410315
chr192839660028397548E07410677