rs2219250

Homo sapiens
T>C
OSBPL10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0263 (7870/29880,GnomAD)
T==0291 (8477/29118,TOPMED)
T==0263 (1315/5008,1000G)
T==0225 (868/3854,ALSPAC)
T==0234 (866/3708,TWINSUK)
chr3:31776052 (GRCh38.p7) (3p23)
AD
GWASdb2
2   publication(s)
See rs on genome
49 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.31776052T>C
GRCh37.p13 chr 3NC_000003.11:g.31817544T>C

Gene: OSBPL10, oxysterol binding protein like 10(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OSBPL10 transcript variant 2NM_001174060.1:c.N/AIntron Variant
OSBPL10 transcript variant 1NM_017784.4:c.N/AIntron Variant
OSBPL10 transcript variant X1XM_005264843.3:c.N/AIntron Variant
OSBPL10 transcript variant X2XM_005264844.4:c.N/AIntron Variant
OSBPL10 transcript variant X3XM_011533326.2:c.N/AIntron Variant
OSBPL10 transcript variant X3XM_017005667.1:c.N/AIntron Variant
OSBPL10 transcript variant X4XM_017005668.1:c.N/AIntron Variant
OSBPL10 transcript variant X6XM_017005669.1:c.N/AIntron Variant
OSBPL10 transcript variant X7XM_017005670.1:c.N/AIntron Variant
OSBPL10 transcript variant X5XM_005264845.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.383C=0.617
1000GenomesAmericanSub694T=0.240C=0.760
1000GenomesEast AsianSub1008T=0.183C=0.817
1000GenomesEuropeSub1006T=0.218C=0.782
1000GenomesGlobalStudy-wide5008T=0.263C=0.737
1000GenomesSouth AsianSub978T=0.240C=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.225C=0.775
The Genome Aggregation DatabaseAfricanSub8690T=0.359C=0.641
The Genome Aggregation DatabaseAmericanSub836T=0.240C=0.760
The Genome Aggregation DatabaseEast AsianSub1604T=0.181C=0.819
The Genome Aggregation DatabaseEuropeSub18448T=0.227C=0.773
The Genome Aggregation DatabaseGlobalStudy-wide29880T=0.263C=0.736
The Genome Aggregation DatabaseOtherSub302T=0.250C=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.291C=0.708
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.234C=0.766
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19554302OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.Perttila JJ Mol Med (Berl)

P-Value

SNP ID p-value Traits Study
rs22192500.00038alcohol dependence(early age of onset)20201924
rs22192500.00057alcohol dependence20201924

eQTL of rs2219250 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 rs2219250 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 )
chr33177407831774256E070-43288
chr33177453031775104E070-42440
chr33183113131831223E07013587
chr33183152331832941E07013979
chr33183300331833108E07015459
chr33177407831774256E081-43288
chr33177453031775104E081-42440
chr33179573831795910E081-21634
chr33179612731796281E081-21263
chr33179991331799963E081-17581
chr33179997831800101E081-17443
chr33180017531800255E081-17289
chr33180428231804565E081-12979
chr33180526731805334E081-12210
chr33180559231805676E081-11868
chr33180574831805857E081-11687
chr33181340731813457E081-4087
chr33181350431813573E081-3971
chr33181409231814167E081-3377
chr33181429031814534E081-3010
chr33181456831814869E081-2675
chr33183113131831223E08113587
chr33183152331832941E08113979
chr33183300331833108E08115459
chr33183339931833477E08115855
chr33183371531833877E08116171
chr33183412931834509E08116585
chr33183467731834821E08117133
chr33183544631835620E08117902
chr33183586831835918E08118324
chr33183638631836456E08118842
chr33177407831774256E082-43288
chr33177453031775104E082-42440
chr33179573831795910E082-21634
chr33179612731796281E082-21263
chr33180526731805334E082-12210
chr33180559231805676E082-11868
chr33180574831805857E082-11687
chr33181409231814167E082-3377
chr33181429031814534E082-3010
chr33181456831814869E082-2675
chr33183113131831223E08213587
chr33183152331832941E08213979
chr33183300331833108E08215459
chr33183339931833477E08215855
chr33183371531833877E08216171
chr33183412931834509E08216585
chr33183467731834821E08217133
chr33183544631835620E08217902