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rs1057516681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516681(A;T)
Make rs1057516681(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99192883
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516681
dbSNP (old)rs1057516681
ClinGenrs1057516681
ebirs1057516681
HLIrs1057516681
Exacrs1057516681
Gnomadrs1057516681
Varsomers1057516681
Maprs1057516681
PheGenIrs1057516681
Biobankrs1057516681
1000 genomesrs1057516681
hgdprs1057516681
ensemblrs1057516681
gopubmedrs1057516681
geneviewrs1057516681
scholarrs1057516681
googlers1057516681
pharmgkbrs1057516681
gwascentralrs1057516681
openSNPrs1057516681
23andMers1057516681
23andMe allrs1057516681
SNPshotrs1057516681
SNPdbers1057516681
MSV3drs1057516681
GWAS Ctlgrs1057516681
Max Magnitude0
ClinVar
Risk rs1057516681(T;T)
Alt rs1057516681(T;T)
Reference Rs1057516681(A;A)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100205111A>T
CLNSRC
CLNACC RCV000410894.1,