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rs180177370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180177370(C;T)
Make rs180177370(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position99817685
GeneVPS13B
is asnp
is mentioned by
dbSNPrs180177370
ebirs180177370
HLIrs180177370
Exacrs180177370
Varsomers180177370
Maprs180177370
PheGenIrs180177370
hapmaprs180177370
1000 genomesrs180177370
hgdprs180177370
ensemblrs180177370
gopubmedrs180177370
geneviewrs180177370
scholarrs180177370
googlers180177370
pharmgkbrs180177370
gwascentralrs180177370
openSNPrs180177370
23andMers180177370
23andMe allrs180177370
SNP Nexus

SNPshotrs180177370
SNPdbers180177370
MSV3drs180177370
GWAS Ctlgrs180177370
Max Magnitude0
ClinVar
Risk rs180177370(T;T)
Alt rs180177370(T;T)
Reference rs180177370(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene VPS13B
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.100829913C>T
CLNSRC ClinVar
CLNACC RCV000058906.1,


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