rs9518426

Homo sapiens
C>T
ITGBL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0148 (4453/29898,GnomAD)
T=0181 (5285/29118,TOPMED)
T=0186 (932/5008,1000G)
T=0077 (296/3854,ALSPAC)
T=0075 (277/3708,TWINSUK)
chr13:101509729 (GRCh38.p7) (13q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.101509729C>T
GRCh37.p13 chr 13NC_000013.10:g.102162080C>T

Gene: ITGBL1, integrin subunit beta like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ITGBL1 transcript variant 4NM_001271754.1:c.N/AIntron Variant
ITGBL1 transcript variant 2NM_001271755.1:c.N/AIntron Variant
ITGBL1 transcript variant 3NM_001271756.1:c.N/AIntron Variant
ITGBL1 transcript variant 1NM_004791.2:c.N/AIntron Variant
ITGBL1 transcript variant X1XM_005254100.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.685T=0.315
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.827T=0.173
1000GenomesEuropeSub1006C=0.923T=0.077
1000GenomesGlobalStudy-wide5008C=0.814T=0.186
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.923T=0.077
The Genome Aggregation DatabaseAfricanSub8688C=0.722T=0.278
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1600C=0.815T=0.185
The Genome Aggregation DatabaseEuropeSub18470C=0.911T=0.088
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.851T=0.148
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.818T=0.181
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.925T=0.075
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
rs95184260.000144alcohol dependence20201924

eQTL of rs9518426 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 rs9518426 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 )
chr13102175019102175420E06712939
chr13102175496102176007E06713416
chr13102125540102125696E068-36384
chr13102125744102126171E068-35909
chr13102174805102174855E06812725
chr13102175496102176007E06813416
chr13102176079102176415E06813999
chr13102174805102174855E06912725
chr13102175019102175420E06912939
chr13102175496102176007E06913416
chr13102176079102176415E06913999
chr13102148610102148650E070-13430
chr13102148699102148771E070-13309
chr13102148823102148894E070-13186
chr13102149103102149153E070-12927
chr13102125540102125696E071-36384
chr13102125744102126171E071-35909
chr13102167030102167370E0714950
chr13102167437102167517E0715357
chr13102174805102174855E07112725
chr13102175019102175420E07112939
chr13102175496102176007E07113416
chr13102176079102176415E07113999
chr13102126369102126488E072-35592
chr13102126754102127317E072-34763
chr13102127402102127490E072-34590
chr13102175496102176007E07213416
chr13102176079102176415E07213999
chr13102125744102126171E074-35909
chr13102174805102174855E07412725
chr13102175019102175420E07412939
chr13102175496102176007E07413416
chr13102176079102176415E07413999
chr13102175019102175420E08112939