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rs1057516558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516558(C;T)
Make rs1057516558(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99820081
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516558
dbSNP (classic)rs1057516558
ClinGenrs1057516558
ebirs1057516558
HLIrs1057516558
Exacrs1057516558
Gnomadrs1057516558
Varsomers1057516558
LitVarrs1057516558
Maprs1057516558
PheGenIrs1057516558
Biobankrs1057516558
1000 genomesrs1057516558
hgdprs1057516558
ensemblrs1057516558
geneviewrs1057516558
scholarrs1057516558
googlers1057516558
pharmgkbrs1057516558
gwascentralrs1057516558
openSNPrs1057516558
23andMers1057516558
23andMe allrs1057516558
SNPshotrs1057516558
SNPdbers1057516558
MSV3drs1057516558
GWAS Ctlgrs1057516558
Max Magnitude0
ClinVar
Risk rs1057516558(T;T)
Alt rs1057516558(T;T)
Reference Rs1057516558(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100832309C>T
CLNSRC
CLNACC RCV000409592.1,