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rs386834061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834061(C;T)
Make rs386834061(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99868312
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834061
ebirs386834061
HLIrs386834061
Exacrs386834061
Varsomers386834061
Maprs386834061
PheGenIrs386834061
hapmaprs386834061
1000 genomesrs386834061
hgdprs386834061
ensemblrs386834061
gopubmedrs386834061
geneviewrs386834061
scholarrs386834061
googlers386834061
pharmgkbrs386834061
gwascentralrs386834061
openSNPrs386834061
23andMers386834061
23andMe allrs386834061
SNP Nexus

SNPshotrs386834061
SNPdbers386834061
MSV3drs386834061
GWAS Ctlgrs386834061
Max Magnitude0
ClinVar
Risk rs386834061(T;T)
Alt rs386834061(T;T)
Reference rs386834061(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100880540C>T
CLNSRC ClinVar
CLNACC RCV000050048.1,


[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.