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rs1057517393

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517393(C;C)
Make rs1057517393(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99776958
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057517393
dbSNP (old)rs1057517393
ClinGenrs1057517393
ebirs1057517393
HLIrs1057517393
Exacrs1057517393
Gnomadrs1057517393
Varsomers1057517393
Maprs1057517393
PheGenIrs1057517393
Biobankrs1057517393
1000 genomesrs1057517393
hgdprs1057517393
ensemblrs1057517393
gopubmedrs1057517393
geneviewrs1057517393
scholarrs1057517393
googlers1057517393
pharmgkbrs1057517393
gwascentralrs1057517393
openSNPrs1057517393
23andMers1057517393
23andMe allrs1057517393
SNPshotrs1057517393
SNPdbers1057517393
MSV3drs1057517393
GWAS Ctlgrs1057517393
Max Magnitude0
ClinVar
Risk rs1057517393(C;C)
Alt rs1057517393(C;C)
Reference Rs1057517393(T;T)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100789186T>C
CLNSRC
CLNACC RCV000409926.1,