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rs1057517163

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517163(-;-)
Make rs1057517163(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99818826
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517163
dbSNP (old)rs1057517163
ClinGenrs1057517163
ebirs1057517163
HLIrs1057517163
Exacrs1057517163
Gnomadrs1057517163
Varsomers1057517163
Maprs1057517163
PheGenIrs1057517163
Biobankrs1057517163
1000 genomesrs1057517163
hgdprs1057517163
ensemblrs1057517163
gopubmedrs1057517163
geneviewrs1057517163
scholarrs1057517163
googlers1057517163
pharmgkbrs1057517163
gwascentralrs1057517163
openSNPrs1057517163
23andMers1057517163
23andMe allrs1057517163
SNPshotrs1057517163
SNPdbers1057517163
MSV3drs1057517163
GWAS Ctlgrs1057517163
Max Magnitude0
ClinVar
Risk rs1057517163(-;-)
Alt rs1057517163(-;-)
Reference Rs1057517163(G;G)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100831054delG
CLNSRC
CLNACC RCV000409484.1,