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rs1057517438

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517438(-;G)
Make rs1057517438(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99871535
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517438
dbSNP (old)rs1057517438
ClinGenrs1057517438
ebirs1057517438
HLIrs1057517438
Exacrs1057517438
Gnomadrs1057517438
Varsomers1057517438
Maprs1057517438
PheGenIrs1057517438
Biobankrs1057517438
1000 genomesrs1057517438
hgdprs1057517438
ensemblrs1057517438
gopubmedrs1057517438
geneviewrs1057517438
scholarrs1057517438
googlers1057517438
pharmgkbrs1057517438
gwascentralrs1057517438
openSNPrs1057517438
23andMers1057517438
23andMe allrs1057517438
SNPshotrs1057517438
SNPdbers1057517438
MSV3drs1057517438
GWAS Ctlgrs1057517438
Max Magnitude0
ClinVar
Risk rs1057517438(G;G)
Alt rs1057517438(G;G)
Reference Rs1057517438(-;-)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100883763dupG
CLNSRC
CLNACC RCV000410502.1,