rs9916612

Homo sapiens
C>T
LOC107984977 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0055 (1648/29956,GnomAD)
T=0054 (1595/29118,TOPMED)
T=0031 (155/5008,1000G)
T=0067 (258/3854,ALSPAC)
T=0062 (230/3708,TWINSUK)
chr17:14860247 (GRCh38.p7) (17p12)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.14860247C>T
GRCh37.p13 chr 17NC_000017.10:g.14763564C>T

Gene: LOC107984977, uncharacterized LOC107984977(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC02096 transcriptXR_001753053.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.964T=0.036
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.924T=0.076
1000GenomesGlobalStudy-wide5008C=0.969T=0.031
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.933T=0.067
The Genome Aggregation DatabaseAfricanSub8732C=0.964T=0.036
The Genome Aggregation DatabaseAmericanSub836C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1596C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.929T=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29956C=0.945T=0.055
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.945T=0.054
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.938T=0.062
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs99166120.00066alcohol dependence20201924

eQTL of rs9916612 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 rs9916612 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 )
chr171472986814730015E070-33549
chr171480723314807394E07043669
chr171480741314807522E07043849