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rs386834057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834057(A;A)
Make rs386834057(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99859307
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834057
ebirs386834057
HLIrs386834057
Exacrs386834057
Varsomers386834057
Maprs386834057
PheGenIrs386834057
hapmaprs386834057
1000 genomesrs386834057
hgdprs386834057
ensemblrs386834057
gopubmedrs386834057
geneviewrs386834057
scholarrs386834057
googlers386834057
pharmgkbrs386834057
gwascentralrs386834057
openSNPrs386834057
23andMers386834057
23andMe allrs386834057
SNP Nexus

SNPshotrs386834057
SNPdbers386834057
MSV3drs386834057
GWAS Ctlgrs386834057
Max Magnitude0
ClinVar
Risk rs386834057(A;A)
Alt rs386834057(A;A)
Reference rs386834057(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100871535G>A
CLNSRC ClinVar
CLNACC RCV000050044.1,


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