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rs180177360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177360(A;A)
Make rs180177360(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99556552
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177360
ebirs180177360
HLIrs180177360
Exacrs180177360
Varsomers180177360
Maprs180177360
PheGenIrs180177360
hapmaprs180177360
1000 genomesrs180177360
hgdprs180177360
ensemblrs180177360
gopubmedrs180177360
geneviewrs180177360
scholarrs180177360
googlers180177360
pharmgkbrs180177360
gwascentralrs180177360
openSNPrs180177360
23andMers180177360
23andMe allrs180177360
SNP Nexus

SNPshotrs180177360
SNPdbers180177360
MSV3drs180177360
GWAS Ctlgrs180177360
Max Magnitude0
ClinVar
Risk rs180177360(A;A)
Alt rs180177360(A;A)
Reference rs180177360(G;G)
Significance Pathogenic
Disease not provided Cohen syndrome
Variation info
Gene VPS13B
CLNDBN not provided Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100568780G>A
CLNSRC ClinVar
CLNACC RCV000058896.1, RCV000169432.1,


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