rs503506

Homo sapiens
G>A
LOC105374494 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0293 (8767/29924,GnomAD)
A=0376 (10948/29118,TOPMED)
A=0332 (1662/5008,1000G)
A=0253 (974/3854,ALSPAC)
A=0270 (1000/3708,TWINSUK)
chr4:13147498 (GRCh38.p7) (4p15.33)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.13147498G>A
GRCh37.p13 chr 4NC_000004.11:g.13149122G>A

Gene: LOC105374494, uncharacterized LOC105374494(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374494 transcriptXR_001741378.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.440A=0.560
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.836A=0.164
1000GenomesEuropeSub1006G=0.753A=0.247
1000GenomesGlobalStudy-wide5008G=0.668A=0.332
1000GenomesSouth AsianSub978G=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.747A=0.253
The Genome Aggregation DatabaseAfricanSub8708G=0.500A=0.500
The Genome Aggregation DatabaseAmericanSub834G=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1614G=0.809A=0.191
The Genome Aggregation DatabaseEuropeSub18466G=0.791A=0.208
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.707A=0.293
The Genome Aggregation DatabaseOtherSub302G=0.620A=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.624A=0.376
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.730A=0.270
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs5035061.57E-05alcohol consumption23953852

eQTL of rs503506 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 rs503506 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 )
chr41314437713144733E070-4389
chr41317698313177037E07027861
chr41317559013176849E08126468
chr41317698313177037E08127861
chr41318161513181803E08132493
chr41318236813182852E08133246
chr41314596513146019E082-3103
chr41318329013183641E08234168