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rs386834093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834093(C;T)
Make rs386834093(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99575719
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834093
ebirs386834093
HLIrs386834093
Exacrs386834093
Varsomers386834093
Maprs386834093
PheGenIrs386834093
hapmaprs386834093
1000 genomesrs386834093
hgdprs386834093
ensemblrs386834093
gopubmedrs386834093
geneviewrs386834093
scholarrs386834093
googlers386834093
pharmgkbrs386834093
gwascentralrs386834093
openSNPrs386834093
23andMers386834093
23andMe allrs386834093
SNP Nexus

SNPshotrs386834093
SNPdbers386834093
MSV3drs386834093
GWAS Ctlgrs386834093
Max Magnitude0
ClinVar
Risk rs386834093(T;T)
Alt rs386834093(T;T)
Reference rs386834093(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100587947C>T
CLNSRC ClinVar
CLNACC RCV000050204.1,


[PMID 20921020] Cohen syndrome diagnosis using whole genome arrays.