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rs386834089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834089(-;-)
Make rs386834089(-;A)
Make rs386834089(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511376
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834089
ebirs386834089
HLIrs386834089
Exacrs386834089
Varsomers386834089
Maprs386834089
PheGenIrs386834089
hapmaprs386834089
1000 genomesrs386834089
hgdprs386834089
ensemblrs386834089
gopubmedrs386834089
geneviewrs386834089
scholarrs386834089
googlers386834089
pharmgkbrs386834089
gwascentralrs386834089
openSNPrs386834089
23andMers386834089
23andMe allrs386834089
SNP Nexus

SNPshotrs386834089
SNPdbers386834089
MSV3drs386834089
GWAS Ctlgrs386834089
Max Magnitude0
ClinVar
Risk rs386834089(A;A)
Alt rs386834089(A;A)
Reference rs386834089(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523604dupA
CLNSRC ClinVar
CLNACC RCV000050080.1,


[PMID 12730828OA-icon.png] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.