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rs386834112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834112(A;A)
Make rs386834112(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99818486
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834112
ebirs386834112
HLIrs386834112
Exacrs386834112
Varsomers386834112
Maprs386834112
PheGenIrs386834112
hapmaprs386834112
1000 genomesrs386834112
hgdprs386834112
ensemblrs386834112
gopubmedrs386834112
geneviewrs386834112
scholarrs386834112
googlers386834112
pharmgkbrs386834112
gwascentralrs386834112
openSNPrs386834112
23andMers386834112
23andMe allrs386834112
SNP Nexus

SNPshotrs386834112
SNPdbers386834112
MSV3drs386834112
GWAS Ctlgrs386834112
Max Magnitude0
ClinVar
Risk rs386834112(A;A)
Alt rs386834112(A;A)
Reference rs386834112(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100830714G>A
CLNSRC ClinVar
CLNACC RCV000050106.1,


[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.