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rs386834108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834108(A;A)
Make rs386834108(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99778787
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834108
ebirs386834108
HLIrs386834108
Exacrs386834108
Varsomers386834108
Maprs386834108
PheGenIrs386834108
hapmaprs386834108
1000 genomesrs386834108
hgdprs386834108
ensemblrs386834108
gopubmedrs386834108
geneviewrs386834108
scholarrs386834108
googlers386834108
pharmgkbrs386834108
gwascentralrs386834108
openSNPrs386834108
23andMers386834108
23andMe allrs386834108
SNP Nexus

SNPshotrs386834108
SNPdbers386834108
MSV3drs386834108
GWAS Ctlgrs386834108
Max Magnitude0
ClinVar
Risk rs386834108(A;A)
Alt rs386834108(A;A)
Reference rs386834108(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100791015G>A
CLNSRC ClinVar
CLNACC RCV000050102.1,


[PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.