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rs386834059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834059(-;-)
Make rs386834059(-;GGAC)
Make rs386834059(GGAC;GGAC)
ReferenceGRCh38 38.1/141
Chromosome8
Position99861828
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834059
ebirs386834059
HLIrs386834059
Exacrs386834059
Varsomers386834059
Maprs386834059
PheGenIrs386834059
hapmaprs386834059
1000 genomesrs386834059
hgdprs386834059
ensemblrs386834059
gopubmedrs386834059
geneviewrs386834059
scholarrs386834059
googlers386834059
pharmgkbrs386834059
gwascentralrs386834059
openSNPrs386834059
23andMers386834059
23andMe allrs386834059
SNP Nexus

SNPshotrs386834059
SNPdbers386834059
MSV3drs386834059
GWAS Ctlgrs386834059
Max Magnitude0
ClinVar
Risk rs386834059(GGAC;GGAC)
Alt rs386834059(GGAC;GGAC)
Reference rs386834059(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100874053_100874056dupGGAC
CLNSRC ClinVar
CLNACC RCV000050046.1,


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