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rs794727771

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727771(C;G)
Make rs794727771(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position99868451
GeneVPS13B
is asnp
is mentioned by
dbSNPrs794727771
ebirs794727771
HLIrs794727771
Exacrs794727771
Varsomers794727771
Maprs794727771
PheGenIrs794727771
hapmaprs794727771
1000 genomesrs794727771
hgdprs794727771
ensemblrs794727771
gopubmedrs794727771
geneviewrs794727771
scholarrs794727771
googlers794727771
pharmgkbrs794727771
gwascentralrs794727771
openSNPrs794727771
23andMers794727771
23andMe allrs794727771
SNP Nexus

SNPshotrs794727771
SNPdbers794727771
MSV3drs794727771
GWAS Ctlgrs794727771
Max Magnitude0
ClinVar
Risk rs794727771(G;G)
Alt rs794727771(G;G)
Reference rs794727771(C;C)
Significance Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100880679C>G
CLNSRC
CLNACC RCV000179226.1,