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rs1057516663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516663(C;T)
Make rs1057516663(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99717371
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516663
dbSNP (old)rs1057516663
ClinGenrs1057516663
ebirs1057516663
HLIrs1057516663
Exacrs1057516663
Gnomadrs1057516663
Varsomers1057516663
Maprs1057516663
PheGenIrs1057516663
Biobankrs1057516663
1000 genomesrs1057516663
hgdprs1057516663
ensemblrs1057516663
gopubmedrs1057516663
geneviewrs1057516663
scholarrs1057516663
googlers1057516663
pharmgkbrs1057516663
gwascentralrs1057516663
openSNPrs1057516663
23andMers1057516663
23andMe allrs1057516663
SNPshotrs1057516663
SNPdbers1057516663
MSV3drs1057516663
GWAS Ctlgrs1057516663
Max Magnitude0
ClinVar
Risk rs1057516663(T;T)
Alt rs1057516663(T;T)
Reference Rs1057516663(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100729599C>T
CLNSRC
CLNACC RCV000409856.1,