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rs1057517063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517063(A;A)
Make rs1057517063(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99835739
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517063
dbSNP (old)rs1057517063
ClinGenrs1057517063
ebirs1057517063
HLIrs1057517063
Exacrs1057517063
Gnomadrs1057517063
Varsomers1057517063
Maprs1057517063
PheGenIrs1057517063
Biobankrs1057517063
1000 genomesrs1057517063
hgdprs1057517063
ensemblrs1057517063
gopubmedrs1057517063
geneviewrs1057517063
scholarrs1057517063
googlers1057517063
pharmgkbrs1057517063
gwascentralrs1057517063
openSNPrs1057517063
23andMers1057517063
23andMe allrs1057517063
SNPshotrs1057517063
SNPdbers1057517063
MSV3drs1057517063
GWAS Ctlgrs1057517063
Max Magnitude0
ClinVar
Risk rs1057517063(A;A)
Alt rs1057517063(A;A)
Reference Rs1057517063(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100847967G>A
CLNSRC
CLNACC RCV000409975.1,