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rs386834074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834074(-;-)
Make rs386834074(-;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99156582
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834074
ebirs386834074
HLIrs386834074
Exacrs386834074
Varsomers386834074
Maprs386834074
PheGenIrs386834074
hapmaprs386834074
1000 genomesrs386834074
hgdprs386834074
ensemblrs386834074
gopubmedrs386834074
geneviewrs386834074
scholarrs386834074
googlers386834074
pharmgkbrs386834074
gwascentralrs386834074
openSNPrs386834074
23andMers386834074
23andMe allrs386834074
SNP Nexus

SNPshotrs386834074
SNPdbers386834074
MSV3drs386834074
GWAS Ctlgrs386834074
Max Magnitude0
ClinVar
Risk rs386834074(;)
Alt rs386834074(;)
Reference rs386834074(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100168810delC
CLNSRC ClinVar
CLNACC RCV000050062.1,


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