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rs386834097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834097(-;-)
Make rs386834097(-;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642265
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834097
ebirs386834097
HLIrs386834097
Exacrs386834097
Varsomers386834097
Maprs386834097
PheGenIrs386834097
hapmaprs386834097
1000 genomesrs386834097
hgdprs386834097
ensemblrs386834097
gopubmedrs386834097
geneviewrs386834097
scholarrs386834097
googlers386834097
pharmgkbrs386834097
gwascentralrs386834097
openSNPrs386834097
23andMers386834097
23andMe allrs386834097
SNP Nexus

SNPshotrs386834097
SNPdbers386834097
MSV3drs386834097
GWAS Ctlgrs386834097
Max Magnitude0
ClinVar
Risk rs386834097(;)
Alt rs386834097(;)
Reference rs386834097(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654493delC
CLNSRC ClinVar
CLNACC RCV000050090.1,


[PMID 15141358OA-icon.png] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.