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rs386834086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834086(C;T)
Make rs386834086(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99511215
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834086
ebirs386834086
HLIrs386834086
Exacrs386834086
Varsomers386834086
Maprs386834086
PheGenIrs386834086
hapmaprs386834086
1000 genomesrs386834086
hgdprs386834086
ensemblrs386834086
gopubmedrs386834086
geneviewrs386834086
scholarrs386834086
googlers386834086
pharmgkbrs386834086
gwascentralrs386834086
openSNPrs386834086
23andMers386834086
23andMe allrs386834086
SNP Nexus

SNPshotrs386834086
SNPdbers386834086
MSV3drs386834086
GWAS Ctlgrs386834086
Max Magnitude0
ClinVar
Risk rs386834086(T;T)
Alt rs386834086(T;T)
Reference rs386834086(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100523443C>T
CLNSRC ClinVar
CLNACC RCV000050077.1,


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