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rs386834058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834058(-;-)
Make rs386834058(-;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99861781
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834058
ebirs386834058
HLIrs386834058
Exacrs386834058
Varsomers386834058
Maprs386834058
PheGenIrs386834058
hapmaprs386834058
1000 genomesrs386834058
hgdprs386834058
ensemblrs386834058
gopubmedrs386834058
geneviewrs386834058
scholarrs386834058
googlers386834058
pharmgkbrs386834058
gwascentralrs386834058
openSNPrs386834058
23andMers386834058
23andMe allrs386834058
SNP Nexus

SNPshotrs386834058
SNPdbers386834058
MSV3drs386834058
GWAS Ctlgrs386834058
Max Magnitude0
ClinVar
Risk rs386834058(;)
Alt rs386834058(;)
Reference rs386834058(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100874009delC
CLNSRC ClinVar
CLNACC RCV000050045.1,


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