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rs386834113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834113(C;T)
Make rs386834113(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99818529
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834113
ebirs386834113
HLIrs386834113
Exacrs386834113
Varsomers386834113
Maprs386834113
PheGenIrs386834113
hapmaprs386834113
1000 genomesrs386834113
hgdprs386834113
ensemblrs386834113
gopubmedrs386834113
geneviewrs386834113
scholarrs386834113
googlers386834113
pharmgkbrs386834113
gwascentralrs386834113
openSNPrs386834113
23andMers386834113
23andMe allrs386834113
SNP Nexus

SNPshotrs386834113
SNPdbers386834113
MSV3drs386834113
GWAS Ctlgrs386834113
Max Magnitude0
ClinVar
Risk rs386834113(T;T)
Alt rs386834113(T;T)
Reference rs386834113(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100830757C>T
CLNSRC ClinVar
CLNACC RCV000050107.2,


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