rs4356270

Homo sapiens
G>A
LOC105369901 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0443 (13280/29952,GnomAD)
G==0494 (14406/29118,TOPMED)
A=0436 (2183/5008,1000G)
A=0375 (1447/3854,ALSPAC)
A=0364 (1351/3708,TWINSUK)
chr12:91925439 (GRCh38.p7) (12q21.33)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.91925439G>A
GRCh37.p13 chr 12NC_000012.11:g.92319215G>A

Gene: LOC105369901, uncharacterized LOC105369901(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369901 transcript variant X2XR_001749253.1:n.N/AIntron Variant
LOC105369901 transcript variant X3XR_001749254.1:n.N/AIntron Variant
LOC105369901 transcript variant X4XR_001749255.1:n.N/AIntron Variant
LOC105369901 transcript variant X5XR_001749256.1:n.N/AIntron Variant
LOC105369901 transcript variant X1XR_945202.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.297A=0.703
1000GenomesAmericanSub694G=0.560A=0.440
1000GenomesEast AsianSub1008G=0.905A=0.095
1000GenomesEuropeSub1006G=0.613A=0.387
1000GenomesGlobalStudy-wide5008G=0.564A=0.436
1000GenomesSouth AsianSub978G=0.530A=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.625A=0.375
The Genome Aggregation DatabaseAfricanSub8722G=0.317A=0.683
The Genome Aggregation DatabaseAmericanSub834G=0.580A=0.420
The Genome Aggregation DatabaseEast AsianSub1622G=0.880A=0.120
The Genome Aggregation DatabaseEuropeSub18472G=0.638A=0.361
The Genome Aggregation DatabaseGlobalStudy-wide29952G=0.556A=0.443
The Genome Aggregation DatabaseOtherSub302G=0.650A=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.494A=0.505
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.636A=0.364
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs43562700.00000842alcohol dependence23691058
rs43562700.000044alcohol dependence20201924
rs43562700.0000444alcoholismpha002892
rs43562700.00036alcohol dependence(early age of onset)20201924

eQTL of rs4356270 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 rs4356270 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 )
chr129228522792285267E070-33948
chr129228561292285704E070-33511
chr129228576992286134E070-33081
chr129228620492286429E070-32786
chr129228649492286710E070-32505
chr129229048492291024E070-28191
chr129229110292291152E070-28063
chr129227813792278506E081-40709
chr129228576992286134E081-33081
chr129228620492286429E081-32786
chr129228649492286710E081-32505
chr129229110292291152E081-28063
chr129228576992286134E082-33081
chr129228620492286429E082-32786