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rs386834114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834114(-;-)
Make rs386834114(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99818803
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834114
ebirs386834114
HLIrs386834114
Exacrs386834114
Varsomers386834114
Maprs386834114
PheGenIrs386834114
hapmaprs386834114
1000 genomesrs386834114
hgdprs386834114
ensemblrs386834114
gopubmedrs386834114
geneviewrs386834114
scholarrs386834114
googlers386834114
pharmgkbrs386834114
gwascentralrs386834114
openSNPrs386834114
23andMers386834114
23andMe allrs386834114
SNP Nexus

SNPshotrs386834114
SNPdbers386834114
MSV3drs386834114
GWAS Ctlgrs386834114
Max Magnitude0
ClinVar
Risk rs386834114(;)
Alt rs386834114(;)
Reference rs386834114(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100831031delA
CLNSRC ClinVar
CLNACC RCV000050108.1,


[PMID 15154116OA-icon.png] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.