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rs180177372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177372(G;T)
Make rs180177372(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99861901
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177372
ebirs180177372
HLIrs180177372
Exacrs180177372
Varsomers180177372
Maprs180177372
PheGenIrs180177372
hapmaprs180177372
1000 genomesrs180177372
hgdprs180177372
ensemblrs180177372
gopubmedrs180177372
geneviewrs180177372
scholarrs180177372
googlers180177372
pharmgkbrs180177372
gwascentralrs180177372
openSNPrs180177372
23andMers180177372
23andMe allrs180177372
SNP Nexus

SNPshotrs180177372
SNPdbers180177372
MSV3drs180177372
GWAS Ctlgrs180177372
Max Magnitude0
ClinVar
Risk rs180177372(A,T;A,T)
Alt rs180177372(A,T;A,T)
Reference rs180177372(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100874129G>T
CLNSRC ClinVar
CLNACC RCV000058887.1,


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