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rs773094891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs773094891(A;A)
Make rs773094891(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99875510
GeneVPS13B
is asnp
is mentioned by
dbSNPrs773094891
dbSNP (classic)rs773094891
ClinGenrs773094891
ebirs773094891
HLIrs773094891
Exacrs773094891
Gnomadrs773094891
Varsomers773094891
LitVarrs773094891
Maprs773094891
PheGenIrs773094891
Biobankrs773094891
1000 genomesrs773094891
hgdprs773094891
ensemblrs773094891
geneviewrs773094891
scholarrs773094891
googlers773094891
pharmgkbrs773094891
gwascentralrs773094891
openSNPrs773094891
23andMers773094891
SNPshotrs773094891
SNPdbers773094891
MSV3drs773094891
GWAS Ctlgrs773094891
Max Magnitude0
ClinVar
Risk rs773094891(A;A) rs773094891(C;C)
Alt rs773094891(A;A) rs773094891(C;C)
Reference Rs773094891(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100887738T>A
CLNSRC
CLNACC RCV000412032.1,