rs12255303

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0142 (4258/29950,GnomAD)
G=0169 (4923/29118,TOPMED)
G=0158 (789/5008,1000G)
G=0102 (395/3854,ALSPAC)
G=0097 (358/3708,TWINSUK)
chr10:18084057 (GRCh38.p7) (10p12.33)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.18084057A>G
GRCh37.p13 chr 10NC_000010.10:g.18372986A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.730G=0.270
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.922G=0.078
1000GenomesEuropeSub1006A=0.889G=0.111
1000GenomesGlobalStudy-wide5008A=0.842G=0.158
1000GenomesSouth AsianSub978A=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.898G=0.102
The Genome Aggregation DatabaseAfricanSub8708A=0.773G=0.227
The Genome Aggregation DatabaseAmericanSub836A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1618A=0.915G=0.085
The Genome Aggregation DatabaseEuropeSub18486A=0.892G=0.107
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.857G=0.142
The Genome Aggregation DatabaseOtherSub302A=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.830G=0.169
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.903G=0.097
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
rs122553030.000121alcohol dependence24277619

eQTL of rs12255303 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:18372986CACNB2ENSG00000165995.14A>G1.6107e-4-56620Nucleus_accumbens_basal_ganglia

meQTL of rs12255303 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 )
chr101836831818369125E067-3861
chr101836949918369701E067-3285
chr101836976318369923E067-3063
chr101836949918369701E068-3285
chr101836976318369923E068-3063
chr101836997618370133E068-2853
chr101836831818369125E069-3861
chr101836949918369701E069-3285
chr101836976318369923E069-3063
chr101837595318376353E0692967
chr101837635718376648E0693371
chr101837595318376353E0712967
chr101837635718376648E0713371
chr101837713718377322E0714151
chr101837635718376648E0723371
chr101836831818369125E074-3861
chr101836949918369701E074-3285
chr101836976318369923E074-3063
chr101836997618370133E074-2853






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr101839310318393224E06720117
chr101839326718393486E06720281
chr101839310318393224E07120117
chr101839326718393486E07120281
chr101839310318393224E07220117
chr101839326718393486E07220281
chr101839310318393224E07420117