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rs1057516489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516489(C;T)
Make rs1057516489(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99699797
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516489
dbSNP (old)rs1057516489
ClinGenrs1057516489
ebirs1057516489
HLIrs1057516489
Exacrs1057516489
Gnomadrs1057516489
Varsomers1057516489
Maprs1057516489
PheGenIrs1057516489
Biobankrs1057516489
1000 genomesrs1057516489
hgdprs1057516489
ensemblrs1057516489
gopubmedrs1057516489
geneviewrs1057516489
scholarrs1057516489
googlers1057516489
pharmgkbrs1057516489
gwascentralrs1057516489
openSNPrs1057516489
23andMers1057516489
23andMe allrs1057516489
SNPshotrs1057516489
SNPdbers1057516489
MSV3drs1057516489
GWAS Ctlgrs1057516489
Max Magnitude0
ClinVar
Risk rs1057516489(T;T)
Alt rs1057516489(T;T)
Reference Rs1057516489(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100712025C>T
CLNSRC
CLNACC RCV000410561.1,