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rs1057516840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516840(G;T)
Make rs1057516840(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99721048
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516840
dbSNP (old)rs1057516840
ClinGenrs1057516840
ebirs1057516840
HLIrs1057516840
Exacrs1057516840
Gnomadrs1057516840
Varsomers1057516840
Maprs1057516840
PheGenIrs1057516840
Biobankrs1057516840
1000 genomesrs1057516840
hgdprs1057516840
ensemblrs1057516840
gopubmedrs1057516840
geneviewrs1057516840
scholarrs1057516840
googlers1057516840
pharmgkbrs1057516840
gwascentralrs1057516840
openSNPrs1057516840
23andMers1057516840
23andMe allrs1057516840
SNPshotrs1057516840
SNPdbers1057516840
MSV3drs1057516840
GWAS Ctlgrs1057516840
Max Magnitude0
ClinVar
Risk rs1057516840(T;T)
Alt rs1057516840(T;T)
Reference Rs1057516840(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100733276G>T
CLNSRC
CLNACC RCV000409821.1,