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rs386834116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834116(A;G)
Make rs386834116(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99819403
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834116
ebirs386834116
HLIrs386834116
Exacrs386834116
Varsomers386834116
Maprs386834116
PheGenIrs386834116
hapmaprs386834116
1000 genomesrs386834116
hgdprs386834116
ensemblrs386834116
gopubmedrs386834116
geneviewrs386834116
scholarrs386834116
googlers386834116
pharmgkbrs386834116
gwascentralrs386834116
openSNPrs386834116
23andMers386834116
23andMe allrs386834116
SNP Nexus

SNPshotrs386834116
SNPdbers386834116
MSV3drs386834116
GWAS Ctlgrs386834116
Max Magnitude0
ClinVar
Risk rs386834116(G;G)
Alt rs386834116(G;G)
Reference rs386834116(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100831631A>G
CLNSRC ClinVar
CLNACC RCV000050110.1,


[PMID 22855652OA-icon.png] Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.