rs1380131

Homo sapiens
C>T
LOC105370504 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0070 (2098/29978,GnomAD)
T=0065 (1895/29118,TOPMED)
T=0108 (539/5008,1000G)
T=0089 (344/3854,ALSPAC)
T=0089 (329/3708,TWINSUK)
chr14:53606140 (GRCh38.p7) (14q22.2)
AD
GWASdb2 | GWASCatalog
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.53606140C>T
GRCh37.p13 chr 14NC_000014.8:g.54072858C>T

Gene: LOC105370504, uncharacterized LOC105370504(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370504 transcript variant X1XR_001750969.1:n.N/AIntron Variant
LOC105370504 transcript variant X8XR_001750974.1:n.N/AIntron Variant
LOC105370504 transcript variant X9XR_001750975.1:n.N/AIntron Variant
LOC105370504 transcript variant X10XR_001750976.1:n.N/AIntron Variant
LOC105370504 transcript variant X3XR_943876.2:n.N/AIntron Variant
LOC105370504 transcript variant X6XR_943877.2:n.N/AIntron Variant
LOC105370504 transcript variant X11XR_943879.2:n.N/AIntron Variant
LOC105370504 transcript variant X2XR_001750970.1:n.N/AGenic Downstream Transcript Variant
LOC105370504 transcript variant X4XR_001750971.1:n.N/AGenic Downstream Transcript Variant
LOC105370504 transcript variant X5XR_001750972.1:n.N/AGenic Downstream Transcript Variant
LOC105370504 transcript variant X7XR_001750973.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986T=0.014
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.917T=0.083
1000GenomesEuropeSub1006C=0.907T=0.093
1000GenomesGlobalStudy-wide5008C=0.892T=0.108
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.911T=0.089
The Genome Aggregation DatabaseAfricanSub8730C=0.979T=0.021
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1616C=0.915T=0.085
The Genome Aggregation DatabaseEuropeSub18492C=0.910T=0.089
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.930T=0.070
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.934T=0.065
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.911T=0.089
PMID Title Author Journal
25303326Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.Chen QPLoS One
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs13801310.000009alcoholism (heaviness of drinking)21529783
rs13801319.00E-06alcohol dependence21529783

eQTL of rs1380131 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 rs1380131 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 )
chr145408019854081048E0697340
chr145409696854097394E08124110
chr145409752854097892E08124670
chr145409696854097394E08224110