rs11926949

Homo sapiens
T>C / T>G
TNIK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0146 (4389/29946,GnomAD)
C=0128 (640/5008,1000G)
C=0135 (520/3854,ALSPAC)
C=0130 (481/3708,TWINSUK)
chr3:171377305 (GRCh38.p7) (3q26.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.171377305T>C
GRCh38.p7 chr 3NC_000003.12:g.171377305T>G
GRCh37.p13 chr 3NC_000003.11:g.171095094T>C
GRCh37.p13 chr 3NC_000003.11:g.171095094T>G

Gene: TNIK, TRAF2 and NCK interacting kinase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TNIK transcript variant 2NM_001161560.2:c.N/AIntron Variant
TNIK transcript variant 3NM_001161561.2:c.N/AIntron Variant
TNIK transcript variant 4NM_001161562.2:c.N/AIntron Variant
TNIK transcript variant 5NM_001161563.2:c.N/AIntron Variant
TNIK transcript variant 6NM_001161564.2:c.N/AIntron Variant
TNIK transcript variant 7NM_001161565.2:c.N/AIntron Variant
TNIK transcript variant 8NM_001161566.2:c.N/AIntron Variant
TNIK transcript variant 1NM_015028.3:c.N/AIntron Variant
TNIK transcript variant 9NR_027767.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.791C=0.209
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.902C=0.098
1000GenomesEuropeSub1006T=0.860C=0.140
1000GenomesGlobalStudy-wide5008T=0.872C=0.128
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.865C=0.135
The Genome Aggregation DatabaseAfricanSub8722T=0.809C=0.191
The Genome Aggregation DatabaseAmericanSub836T=0.920C=0.08,
The Genome Aggregation DatabaseEast AsianSub1612T=0.895C=0.105
The Genome Aggregation DatabaseEuropeSub18474T=0.868C=0.132
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.853C=0.146
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.18,
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.870C=0.130
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
rs119269490.00062alcohol dependence(early age of onset)20201924
rs119269490.00098alcohol dependence20201924

eQTL of rs11926949 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 rs11926949 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.