rs11594537

Homo sapiens
T>C
LOC105378314 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0118 (3547/29852,GnomAD)
C=0111 (3238/29118,TOPMED)
C=0076 (382/5008,1000G)
C=0185 (713/3854,ALSPAC)
C=0177 (658/3708,TWINSUK)
chr10:57800925 (GRCh38.p7) (10q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.57800925T>C
GRCh37.p13 chr 10NC_000010.10:g.59560685T>C

Gene: LOC105378314, uncharacterized LOC105378314(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378314 transcriptXR_001747454.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.984C=0.016
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.805C=0.195
1000GenomesGlobalStudy-wide5008T=0.924C=0.076
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.815C=0.185
The Genome Aggregation DatabaseAfricanSub8724T=0.963C=0.037
The Genome Aggregation DatabaseAmericanSub830T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1590T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18406T=0.833C=0.166
The Genome Aggregation DatabaseGlobalStudy-wide29852T=0.881C=0.118
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.888C=0.111
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.823C=0.177
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
rs115945375.36E-06alcohol dependence (age at onset)24962325

eQTL of rs11594537 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 rs11594537 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 )
chr105954655759547364E070-13321
chr105954790159548037E070-12648
chr105954805259548139E070-12546
chr105960769459607836E07047009
chr105960799559608117E07047310
chr105960825459608428E07047569
chr105960867459608744E07047989
chr105960879059608912E07048105
chr105960943659609587E07048751
chr105960963359609777E07048948