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rs386834054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs386834054(-;-)
Make rs386834054(-;CA)
ReferenceGRCh38 38.1/141
Chromosome8
Position99848834
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834054
ebirs386834054
HLIrs386834054
Exacrs386834054
Varsomers386834054
Maprs386834054
PheGenIrs386834054
hapmaprs386834054
1000 genomesrs386834054
hgdprs386834054
ensemblrs386834054
gopubmedrs386834054
geneviewrs386834054
scholarrs386834054
googlers386834054
pharmgkbrs386834054
gwascentralrs386834054
openSNPrs386834054
23andMers386834054
23andMe allrs386834054
SNP Nexus

SNPshotrs386834054
SNPdbers386834054
MSV3drs386834054
GWAS Ctlgrs386834054
Max Magnitude0
ClinVar
Risk rs386834054(;)
Alt rs386834054(;)
Reference rs386834054(CA;CA)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100861062_100861063delCA
CLNSRC ClinVar
CLNACC RCV000050041.1,


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