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rs121912604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912604(C;T)
Make rs121912604(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position94304583
GenePLCE1
is asnp
is mentioned by
dbSNPrs121912604
dbSNP (classic)rs121912604
ClinGenrs121912604
ebirs121912604
HLIrs121912604
Exacrs121912604
Gnomadrs121912604
Varsomers121912604
LitVarrs121912604
Maprs121912604
PheGenIrs121912604
Biobankrs121912604
1000 genomesrs121912604
hgdprs121912604
ensemblrs121912604
geneviewrs121912604
scholarrs121912604
googlers121912604
pharmgkbrs121912604
gwascentralrs121912604
openSNPrs121912604
23andMers121912604
SNPshotrs121912604
SNPdbers121912604
MSV3drs121912604
GWAS Ctlgrs121912604
Max Magnitude0
OMIM608414
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912604(T;T)
Alt rs121912604(T;T)
Reference Rs121912604(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene PLCE1
CLNDBN Nephrotic syndrome, type 3
Reversed 0
HGVS NC_000010.10:g.96064340C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002440.3,