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rs786204533

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204533(-;-)
Make rs786204533(-;T)
Make rs786204533(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position99641849
GeneVPS13B
is asnp
is mentioned by
dbSNPrs786204533
ebirs786204533
HLIrs786204533
Exacrs786204533
Varsomers786204533
Maprs786204533
PheGenIrs786204533
hapmaprs786204533
1000 genomesrs786204533
hgdprs786204533
ensemblrs786204533
gopubmedrs786204533
geneviewrs786204533
scholarrs786204533
googlers786204533
pharmgkbrs786204533
gwascentralrs786204533
openSNPrs786204533
23andMers786204533
23andMe allrs786204533
SNP Nexus

SNPshotrs786204533
SNPdbers786204533
MSV3drs786204533
GWAS Ctlgrs786204533
Max Magnitude0
ClinVar
Risk rs786204533(T;T)
Alt rs786204533(T;T)
Reference rs786204533(;)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100654077dupT
CLNSRC
CLNACC RCV000169235.1,