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rs180177361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177361(C;G)
Make rs180177361(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99556584
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177361
ebirs180177361
HLIrs180177361
Exacrs180177361
Varsomers180177361
Maprs180177361
PheGenIrs180177361
hapmaprs180177361
1000 genomesrs180177361
hgdprs180177361
ensemblrs180177361
gopubmedrs180177361
geneviewrs180177361
scholarrs180177361
googlers180177361
pharmgkbrs180177361
gwascentralrs180177361
openSNPrs180177361
23andMers180177361
23andMe allrs180177361
SNP Nexus

SNPshotrs180177361
SNPdbers180177361
MSV3drs180177361
GWAS Ctlgrs180177361
Max Magnitude0
ClinVar
Risk rs180177361(G;G)
Alt rs180177361(G;G)
Reference rs180177361(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100568812C>G
CLNSRC ClinVar
CLNACC RCV000058897.1,


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