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rs1057516422

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516422(C;T)
Make rs1057516422(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99096396
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516422
dbSNP (old)rs1057516422
ClinGenrs1057516422
ebirs1057516422
HLIrs1057516422
Exacrs1057516422
Gnomadrs1057516422
Varsomers1057516422
Maprs1057516422
PheGenIrs1057516422
Biobankrs1057516422
1000 genomesrs1057516422
hgdprs1057516422
ensemblrs1057516422
gopubmedrs1057516422
geneviewrs1057516422
scholarrs1057516422
googlers1057516422
pharmgkbrs1057516422
gwascentralrs1057516422
openSNPrs1057516422
23andMers1057516422
23andMe allrs1057516422
SNPshotrs1057516422
SNPdbers1057516422
MSV3drs1057516422
GWAS Ctlgrs1057516422
Max Magnitude0
ClinVar
Risk rs1057516422(T;T)
Alt rs1057516422(T;T)
Reference Rs1057516422(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100108624C>T
CLNSRC
CLNACC RCV000411018.1,