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rs1057517168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517168(G;T)
Make rs1057517168(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99832653
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517168
dbSNP (old)rs1057517168
ClinGenrs1057517168
ebirs1057517168
HLIrs1057517168
Exacrs1057517168
Gnomadrs1057517168
Varsomers1057517168
Maprs1057517168
PheGenIrs1057517168
Biobankrs1057517168
1000 genomesrs1057517168
hgdprs1057517168
ensemblrs1057517168
gopubmedrs1057517168
geneviewrs1057517168
scholarrs1057517168
googlers1057517168
pharmgkbrs1057517168
gwascentralrs1057517168
openSNPrs1057517168
23andMers1057517168
23andMe allrs1057517168
SNPshotrs1057517168
SNPdbers1057517168
MSV3drs1057517168
GWAS Ctlgrs1057517168
Max Magnitude0
ClinVar
Risk rs1057517168(T;T)
Alt rs1057517168(T;T)
Reference Rs1057517168(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100844881G>T
CLNSRC
CLNACC RCV000412233.1,