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rs1060501253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 7.5 Wilms tumor susceptibility (predicted)
(C;C) 0 common in clinvar


Make rs1060501253(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position32428031
GeneWT1
is asnp
is mentioned by
dbSNPrs1060501253
dbSNP (classic)rs1060501253
ClinGenrs1060501253
ebirs1060501253
HLIrs1060501253
Exacrs1060501253
Gnomadrs1060501253
Varsomers1060501253
LitVarrs1060501253
Maprs1060501253
PheGenIrs1060501253
Biobankrs1060501253
1000 genomesrs1060501253
hgdprs1060501253
ensemblrs1060501253
geneviewrs1060501253
scholarrs1060501253
googlers1060501253
pharmgkbrs1060501253
gwascentralrs1060501253
openSNPrs1060501253
23andMers1060501253
SNPshotrs1060501253
SNPdbers1060501253
MSV3drs1060501253
GWAS Ctlgrs1060501253
Max Magnitude7.5

aka c.161delC (p.Pro54Argfs)


ClinVar
Risk rs1060501253(-;-)
Alt rs1060501253(-;-)
Reference Rs1060501253(C;C)
Significance Pathogenic
Disease Drash syndrome Frasier syndrome Wilms tumor 1
Variation info
Gene WT1
CLNDBN Drash syndrome Frasier syndrome Wilms tumor 1
Reversed 1
HGVS NC_000011.9:g.32449577delG
CLNSRC
CLNACC RCV000469904.1,