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rs1057516494

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516494(A;A)
Make rs1057516494(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position99717186
GeneVPS13B
is asnp
is mentioned by
dbSNPrs1057516494
dbSNP (old)rs1057516494
ClinGenrs1057516494
ebirs1057516494
HLIrs1057516494
Exacrs1057516494
Gnomadrs1057516494
Varsomers1057516494
Maprs1057516494
PheGenIrs1057516494
Biobankrs1057516494
1000 genomesrs1057516494
hgdprs1057516494
ensemblrs1057516494
gopubmedrs1057516494
geneviewrs1057516494
scholarrs1057516494
googlers1057516494
pharmgkbrs1057516494
gwascentralrs1057516494
openSNPrs1057516494
23andMers1057516494
23andMe allrs1057516494
SNPshotrs1057516494
SNPdbers1057516494
MSV3drs1057516494
GWAS Ctlgrs1057516494
Max Magnitude0
ClinVar
Risk rs1057516494(A;A)
Alt rs1057516494(A;A)
Reference Rs1057516494(C;C)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100729414C>A
CLNSRC
CLNACC RCV000412148.1,