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rs386834110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834110(C;T)
Make rs386834110(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99809477
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834110
ebirs386834110
HLIrs386834110
Exacrs386834110
Varsomers386834110
Maprs386834110
PheGenIrs386834110
hapmaprs386834110
1000 genomesrs386834110
hgdprs386834110
ensemblrs386834110
gopubmedrs386834110
geneviewrs386834110
scholarrs386834110
googlers386834110
pharmgkbrs386834110
gwascentralrs386834110
openSNPrs386834110
23andMers386834110
23andMe allrs386834110
SNP Nexus

SNPshotrs386834110
SNPdbers386834110
MSV3drs386834110
GWAS Ctlgrs386834110
Max Magnitude0
ClinVar
Risk rs386834110(T;T)
Alt rs386834110(T;T)
Reference rs386834110(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100821705C>T
CLNSRC ClinVar
CLNACC RCV000050104.1,


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