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rs386834091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834091(C;C)
Make rs386834091(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99521012
GeneVPS13B
is asnp
is mentioned by
dbSNPrs386834091
ebirs386834091
HLIrs386834091
Exacrs386834091
Varsomers386834091
Maprs386834091
PheGenIrs386834091
hapmaprs386834091
1000 genomesrs386834091
hgdprs386834091
ensemblrs386834091
gopubmedrs386834091
geneviewrs386834091
scholarrs386834091
googlers386834091
pharmgkbrs386834091
gwascentralrs386834091
openSNPrs386834091
23andMers386834091
23andMe allrs386834091
SNP Nexus

SNPshotrs386834091
SNPdbers386834091
MSV3drs386834091
GWAS Ctlgrs386834091
Max Magnitude0
ClinVar
Risk rs386834091(C;C)
Alt rs386834091(C;C)
Reference rs386834091(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100533240T>C
CLNSRC ClinVar
CLNACC RCV000050082.1,


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