rs250378

Homo sapiens
G>T
ARL15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0272 (8161/29924,GnomAD)
G==0272 (7932/29118,TOPMED)
G==0353 (1769/5008,1000G)
G==0263 (1012/3854,ALSPAC)
G==0254 (943/3708,TWINSUK)
chr5:54241769 (GRCh38.p7) (5q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.54241769G>T
GRCh37.p13 chr 5NC_000005.9:g.53537599G>T

Gene: ARL15, ADP ribosylation factor like GTPase 15(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ARL15 transcriptNM_019087.2:c.N/AIntron Variant
ARL15 transcript variant X1XM_011543498.2:c.N/AIntron Variant
ARL15 transcript variant X2XM_011543499.2:c.N/AIntron Variant
ARL15 transcript variant X3XM_011543500.2:c.N/AIntron Variant
ARL15 transcript variant X4XM_017009598.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.243T=0.757
1000GenomesAmericanSub694G=0.470T=0.530
1000GenomesEast AsianSub1008G=0.554T=0.446
1000GenomesEuropeSub1006G=0.252T=0.748
1000GenomesGlobalStudy-wide5008G=0.353T=0.647
1000GenomesSouth AsianSub978G=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.263T=0.737
The Genome Aggregation DatabaseAfricanSub8708G=0.244T=0.756
The Genome Aggregation DatabaseAmericanSub832G=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1608G=0.588T=0.412
The Genome Aggregation DatabaseEuropeSub18474G=0.250T=0.749
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.272T=0.727
The Genome Aggregation DatabaseOtherSub302G=0.210T=0.790
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.272T=0.727
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.254T=0.746
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs2503789.95E-07alcohol dependence (age at onset)24962325

eQTL of rs250378 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 rs250378 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 )
chr55352492153525456E068-12143
chr55357394153574185E06936342
chr55357422253574433E06936623
chr55351066653510874E070-26725
chr55351115053511650E070-25949
chr55351327153513323E070-24276
chr55357394153574185E07236342
chr55357422253574433E07236623
chr55357444553574505E07236846
chr55357422253574433E07436623
chr55357444553574505E07436846
chr55351066653510874E081-26725
chr55351115053511650E081-25949
chr55351115053511650E082-25949







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr55355060653550896E07113007