rs61116530

Homo sapiens
T>C
LOC105370217 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0174 (5197/29848,GnomAD)
C=0154 (4495/29116,TOPMED)
C=0182 (910/5008,1000G)
C=0168 (649/3854,ALSPAC)
C=0183 (677/3708,TWINSUK)
chr13:57511431 (GRCh38.p7) (13q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.57511431T>C
GRCh37.p13 chr 13NC_000013.10:g.58085565T>C

Gene: LOC105370217, uncharacterized LOC105370217(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370217 transcriptXR_941983.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.877C=0.123
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.634C=0.366
1000GenomesEuropeSub1006T=0.824C=0.176
1000GenomesGlobalStudy-wide5008T=0.818C=0.182
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.832C=0.168
The Genome Aggregation DatabaseAfricanSub8714T=0.876C=0.124
The Genome Aggregation DatabaseAmericanSub836T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1570T=0.662C=0.338
The Genome Aggregation DatabaseEuropeSub18426T=0.811C=0.188
The Genome Aggregation DatabaseGlobalStudy-wide29848T=0.825C=0.174
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.845C=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.817C=0.183
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
rs611165305.94E-06alcohol dependence (age at onset)24962325

eQTL of rs61116530 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 rs61116530 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 )
chr135806669158066859E081-18706

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr135813219258132622E07146627