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rs180177354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177354(C;T)
Make rs180177354(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99135674
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177354
ebirs180177354
HLIrs180177354
Exacrs180177354
Varsomers180177354
Maprs180177354
PheGenIrs180177354
hapmaprs180177354
1000 genomesrs180177354
hgdprs180177354
ensemblrs180177354
gopubmedrs180177354
geneviewrs180177354
scholarrs180177354
googlers180177354
pharmgkbrs180177354
gwascentralrs180177354
openSNPrs180177354
23andMers180177354
23andMe allrs180177354
SNP Nexus

SNPshotrs180177354
SNPdbers180177354
MSV3drs180177354
GWAS Ctlgrs180177354
Max Magnitude0
ClinVar
Risk rs180177354(T;T)
Alt rs180177354(T;T)
Reference rs180177354(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100147902C>T
CLNSRC ClinVar
CLNACC RCV000058890.1,


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