rs993598

Homo sapiens
G>A
OSBPL6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0421 (12588/29880,GnomAD)
A=0381 (11100/29118,TOPMED)
A=0407 (2040/5008,1000G)
A=0472 (1819/3854,ALSPAC)
A=0478 (1773/3708,TWINSUK)
chr2:178317968 (GRCh38.p7) (2q31.2)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.178317968G>A
GRCh37.p13 chr 2NC_000002.11:g.179182695G>A

Gene: OSBPL6, oxysterol binding protein like 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
OSBPL6 transcript variant 3NM_001201480.1:c.N/AIntron Variant
OSBPL6 transcript variant 4NM_001201481.1:c.N/AIntron Variant
OSBPL6 transcript variant 5NM_001201482.1:c.N/AIntron Variant
OSBPL6 transcript variant 1NM_032523.3:c.N/AIntron Variant
OSBPL6 transcript variant 2NM_145739.2:c.N/AGenic Upstream Transcript Variant
OSBPL6 transcript variant X4XM_011510539.1:c.N/AIntron Variant
OSBPL6 transcript variant X1XM_017003265.1:c.N/AIntron Variant
OSBPL6 transcript variant X2XM_017003266.1:c.N/AIntron Variant
OSBPL6 transcript variant X3XM_017003267.1:c.N/AIntron Variant
OSBPL6 transcript variant X5XM_017003268.1:c.N/AIntron Variant
OSBPL6 transcript variant X6XM_017003269.1:c.N/AIntron Variant
OSBPL6 transcript variant X7XM_017003270.1:c.N/AIntron Variant
OSBPL6 transcript variant X8XM_017003271.1:c.N/AIntron Variant
OSBPL6 transcript variant X9XM_017003272.1:c.N/AIntron Variant
OSBPL6 transcript variant X10XM_017003273.1:c.N/AIntron Variant
OSBPL6 transcript variant X11XM_017003274.1:c.N/AIntron Variant
OSBPL6 transcript variant X12XM_017003275.1:c.N/AIntron Variant
OSBPL6 transcript variant X13XM_017003276.1:c.N/AIntron Variant
OSBPL6 transcript variant X14XM_017003277.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.771A=0.229
1000GenomesAmericanSub694G=0.560A=0.440
1000GenomesEast AsianSub1008G=0.480A=0.520
1000GenomesEuropeSub1006G=0.492A=0.508
1000GenomesGlobalStudy-wide5008G=0.593A=0.407
1000GenomesSouth AsianSub978G=0.590A=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.528A=0.472
The Genome Aggregation DatabaseAfricanSub8704G=0.737A=0.263
The Genome Aggregation DatabaseAmericanSub836G=0.530A=0.470
The Genome Aggregation DatabaseEast AsianSub1612G=0.469A=0.531
The Genome Aggregation DatabaseEuropeSub18428G=0.519A=0.480
The Genome Aggregation DatabaseGlobalStudy-wide29880G=0.578A=0.421
The Genome Aggregation DatabaseOtherSub300G=0.350A=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.618A=0.381
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.522A=0.478
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
20007504Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.-Hum Mol Genet

P-Value

SNP ID p-value Traits Study
rs9935982.75E-05alcohol consumption23953852

eQTL of rs993598 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 rs993598 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 )
chr2179136634179137023E067-45672
chr2179192832179193045E06710137
chr2179195443179195660E06712748
chr2179196305179196504E06713610
chr2179136159179136203E068-46492
chr2179136634179137023E068-45672
chr2179137294179137374E068-45321
chr2179142486179142777E068-39918
chr2179142788179142988E068-39707
chr2179143090179143231E068-39464
chr2179195443179195660E06812748
chr2179136634179137023E069-45672
chr2179137294179137374E069-45321
chr2179192832179193045E06910137
chr2179195443179195660E06912748
chr2179196305179196504E07013610
chr2179136634179137023E071-45672
chr2179195443179195660E07112748
chr2179136634179137023E073-45672
chr2179136634179137023E074-45672
chr2179137294179137374E074-45321
chr2179146766179147335E081-35360
chr2179231405179231525E08148710
chr2179231952179232589E08149257
chr2179231405179231525E08248710
chr2179231952179232589E08249257