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rs1057516353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516353(C;T)
Make rs1057516353(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835267
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516353
dbSNP (old)rs1057516353
ClinGenrs1057516353
ebirs1057516353
HLIrs1057516353
Exacrs1057516353
Gnomadrs1057516353
Varsomers1057516353
Maprs1057516353
PheGenIrs1057516353
Biobankrs1057516353
1000 genomesrs1057516353
hgdprs1057516353
ensemblrs1057516353
gopubmedrs1057516353
geneviewrs1057516353
scholarrs1057516353
googlers1057516353
pharmgkbrs1057516353
gwascentralrs1057516353
openSNPrs1057516353
23andMers1057516353
23andMe allrs1057516353
SNPshotrs1057516353
SNPdbers1057516353
MSV3drs1057516353
GWAS Ctlgrs1057516353
Max Magnitude0
ClinVar
Risk rs1057516353(T;T)
Alt rs1057516353(T;T)
Reference Rs1057516353(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847495C>T
CLNSRC
CLNACC RCV000411971.1,