rs9554813

Homo sapiens
A>G
ITGBL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0187 (5623/29942,GnomAD)
G=0180 (5262/29118,TOPMED)
G=0239 (1199/5008,1000G)
G=0208 (800/3854,ALSPAC)
G=0210 (777/3708,TWINSUK)
chr13:101639227 (GRCh38.p7) (13q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.101639227A>G
GRCh37.p13 chr 13NC_000013.10:g.102291577A>G

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
1000GenomesAfricanSub1322A=0.896G=0.104
1000GenomesAmericanSub694A=0.750G=0.250
1000GenomesEast AsianSub1008A=0.574G=0.426
1000GenomesEuropeSub1006A=0.782G=0.218
1000GenomesGlobalStudy-wide5008A=0.761G=0.239
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.792G=0.208
The Genome Aggregation DatabaseAfricanSub8720A=0.874G=0.126
The Genome Aggregation DatabaseAmericanSub836A=0.770G=0.230
The Genome Aggregation DatabaseEast AsianSub1614A=0.564G=0.436
The Genome Aggregation DatabaseEuropeSub18470A=0.807G=0.193
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.812G=0.187
The Genome Aggregation DatabaseOtherSub302A=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.819G=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.790G=0.210
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
rs95548130.00034alcohol dependence(early age of onset)20201924
rs95548130.00038alcohol dependence20201924

eQTL of rs9554813 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 rs9554813 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 )
chr13102333514102333564E08141937

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr13102279163102279218E067-12359
chr13102279276102279904E067-11673
chr13102279965102280288E067-11289
chr13102279163102279218E068-12359
chr13102279276102279904E068-11673
chr13102279965102280288E068-11289
chr13102279163102279218E069-12359
chr13102279276102279904E069-11673
chr13102279965102280288E069-11289
chr13102279163102279218E071-12359
chr13102279276102279904E071-11673
chr13102279965102280288E071-11289
chr13102279163102279218E072-12359
chr13102279276102279904E072-11673
chr13102279965102280288E072-11289
chr13102279965102280288E073-11289
chr13102279163102279218E074-12359
chr13102279276102279904E074-11673
chr13102279965102280288E074-11289