rs2168422

Homo sapiens
G>T
OSBPL10 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0359 (10738/29876,GnomAD)
T=0428 (12466/29118,TOPMED)
T=0351 (1756/5008,1000G)
T=0236 (909/3854,ALSPAC)
T=0246 (914/3708,TWINSUK)
chr3:31763350 (GRCh38.p7) (3p23)
AD
GWASdb2
2   publication(s)
See rs on genome
52 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.31763350G>T
GRCh37.p13 chr 3NC_000003.11:g.31804842G>T

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
1000GenomesAfricanSub1322G=0.297T=0.703
1000GenomesAmericanSub694G=0.730T=0.270
1000GenomesEast AsianSub1008G=0.821T=0.179
1000GenomesEuropeSub1006G=0.766T=0.234
1000GenomesGlobalStudy-wide5008G=0.649T=0.351
1000GenomesSouth AsianSub978G=0.770T=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.764T=0.236
The Genome Aggregation DatabaseAfricanSub8700G=0.361T=0.639
The Genome Aggregation DatabaseAmericanSub836G=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1616G=0.830T=0.170
The Genome Aggregation DatabaseEuropeSub18422G=0.749T=0.250
The Genome Aggregation DatabaseGlobalStudy-wide29876G=0.640T=0.359
The Genome Aggregation DatabaseOtherSub302G=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.571T=0.428
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.754T=0.246
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
rs21684220.00078alcohol dependence20201924

eQTL of rs2168422 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 rs2168422 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 )
chr33177407831774256E070-30586
chr33177453031775104E070-29738
chr33183113131831223E07026289
chr33183152331832941E07026681
chr33183300331833108E07028161
chr33176575631765931E081-38911
chr33176594831766161E081-38681
chr33176618731766458E081-38384
chr33177407831774256E081-30586
chr33177453031775104E081-29738
chr33179573831795910E081-8932
chr33179612731796281E081-8561
chr33179991331799963E081-4879
chr33179997831800101E081-4741
chr33180017531800255E081-4587
chr33180428231804565E081-277
chr33180526731805334E081425
chr33180559231805676E081750
chr33180574831805857E081906
chr33181340731813457E0818565
chr33181350431813573E0818662
chr33181409231814167E0819250
chr33181429031814534E0819448
chr33181456831814869E0819726
chr33183113131831223E08126289
chr33183152331832941E08126681
chr33183300331833108E08128161
chr33183339931833477E08128557
chr33183371531833877E08128873
chr33183412931834509E08129287
chr33183467731834821E08129835
chr33183544631835620E08130604
chr33183586831835918E08131026
chr33183638631836456E08131544
chr33177407831774256E082-30586
chr33177453031775104E082-29738
chr33179573831795910E082-8932
chr33179612731796281E082-8561
chr33180526731805334E082425
chr33180559231805676E082750
chr33180574831805857E082906
chr33181409231814167E0829250
chr33181429031814534E0829448
chr33181456831814869E0829726
chr33183113131831223E08226289
chr33183152331832941E08226681
chr33183300331833108E08228161
chr33183339931833477E08228557
chr33183371531833877E08228873
chr33183412931834509E08229287
chr33183467731834821E08229835
chr33183544631835620E08230604