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rs180177355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177355(A;A)
Make rs180177355(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position99135733
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177355
ebirs180177355
HLIrs180177355
Exacrs180177355
Varsomers180177355
Maprs180177355
PheGenIrs180177355
hapmaprs180177355
1000 genomesrs180177355
hgdprs180177355
ensemblrs180177355
gopubmedrs180177355
geneviewrs180177355
scholarrs180177355
googlers180177355
pharmgkbrs180177355
gwascentralrs180177355
openSNPrs180177355
23andMers180177355
23andMe allrs180177355
SNP Nexus

SNPshotrs180177355
SNPdbers180177355
MSV3drs180177355
GWAS Ctlgrs180177355
Max Magnitude0
ClinVar
Risk rs180177355(A;A)
Alt rs180177355(A;A)
Reference rs180177355(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100147961G>A
CLNSRC ClinVar
CLNACC RCV000058891.1,


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