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rs386834102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834102(-;-)
Make rs386834102(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position99717328
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834102
ebirs386834102
HLIrs386834102
Exacrs386834102
Varsomers386834102
Maprs386834102
PheGenIrs386834102
hapmaprs386834102
1000 genomesrs386834102
hgdprs386834102
ensemblrs386834102
gopubmedrs386834102
geneviewrs386834102
scholarrs386834102
googlers386834102
pharmgkbrs386834102
gwascentralrs386834102
openSNPrs386834102
23andMers386834102
23andMe allrs386834102
SNP Nexus

SNPshotrs386834102
SNPdbers386834102
MSV3drs386834102
GWAS Ctlgrs386834102
Max Magnitude0
ClinVar
Risk rs386834102(;)
Alt rs386834102(;)
Reference rs386834102(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100729556delA
CLNSRC ClinVar
CLNACC RCV000050095.1,


[PMID 19006247] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.