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rs180177369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177369(A;A)
Make rs180177369(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position99817659
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177369
ebirs180177369
HLIrs180177369
Exacrs180177369
Varsomers180177369
Maprs180177369
PheGenIrs180177369
hapmaprs180177369
1000 genomesrs180177369
hgdprs180177369
ensemblrs180177369
gopubmedrs180177369
geneviewrs180177369
scholarrs180177369
googlers180177369
pharmgkbrs180177369
gwascentralrs180177369
openSNPrs180177369
23andMers180177369
23andMe allrs180177369
SNP Nexus

SNPshotrs180177369
SNPdbers180177369
MSV3drs180177369
GWAS Ctlgrs180177369
Max Magnitude0
ClinVar
Risk rs180177369(A;A)
Alt rs180177369(A;A)
Reference rs180177369(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100829887C>A
CLNSRC ClinVar
CLNACC RCV000058905.1,


[PMID 16648375OA-icon.png] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.