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rs386834107

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834107(C;T)
Make rs386834107(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99778780
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834107
ebirs386834107
HLIrs386834107
Exacrs386834107
Varsomers386834107
Maprs386834107
PheGenIrs386834107
hapmaprs386834107
1000 genomesrs386834107
hgdprs386834107
ensemblrs386834107
gopubmedrs386834107
geneviewrs386834107
scholarrs386834107
googlers386834107
pharmgkbrs386834107
gwascentralrs386834107
openSNPrs386834107
23andMers386834107
23andMe allrs386834107
SNP Nexus

SNPshotrs386834107
SNPdbers386834107
MSV3drs386834107
GWAS Ctlgrs386834107
Max Magnitude0
ClinVar
Risk rs386834107(T;T)
Alt rs386834107(T;T)
Reference rs386834107(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100791008C>T
CLNSRC ClinVar
CLNACC RCV000050101.1,


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


[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.