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rs386834105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834105(-;-)
Make rs386834105(-;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99766869
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834105
ebirs386834105
HLIrs386834105
Exacrs386834105
Varsomers386834105
Maprs386834105
PheGenIrs386834105
hapmaprs386834105
1000 genomesrs386834105
hgdprs386834105
ensemblrs386834105
gopubmedrs386834105
geneviewrs386834105
scholarrs386834105
googlers386834105
pharmgkbrs386834105
gwascentralrs386834105
openSNPrs386834105
23andMers386834105
23andMe allrs386834105
SNP Nexus

SNPshotrs386834105
SNPdbers386834105
MSV3drs386834105
GWAS Ctlgrs386834105
Max Magnitude0
ClinVar
Risk rs386834105(;)
Alt rs386834105(;)
Reference rs386834105(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100779097delG
CLNSRC ClinVar
CLNACC RCV000050099.1,


[PMID 15173253OA-icon.png] Broader geographical spectrum of Cohen syndrome due to COH1 mutations.