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rs180177365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177365(C;T)
Make rs180177365(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99642435
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177365
ebirs180177365
HLIrs180177365
Exacrs180177365
Varsomers180177365
Maprs180177365
PheGenIrs180177365
hapmaprs180177365
1000 genomesrs180177365
hgdprs180177365
ensemblrs180177365
gopubmedrs180177365
geneviewrs180177365
scholarrs180177365
googlers180177365
pharmgkbrs180177365
gwascentralrs180177365
openSNPrs180177365
23andMers180177365
23andMe allrs180177365
SNP Nexus

SNPshotrs180177365
SNPdbers180177365
MSV3drs180177365
GWAS Ctlgrs180177365
Max Magnitude0
ClinVar
Risk rs180177365(T;T)
Alt rs180177365(T;T)
Reference rs180177365(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100654663C>T
CLNSRC ClinVar
CLNACC RCV000058901.1,


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