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rs121912605

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912605(C;T)
Make rs121912605(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position94270547
GenePLCE1
is asnp
is mentioned by
dbSNPrs121912605
dbSNP (classic)rs121912605
ClinGenrs121912605
ebirs121912605
HLIrs121912605
Exacrs121912605
Gnomadrs121912605
Varsomers121912605
LitVarrs121912605
Maprs121912605
PheGenIrs121912605
Biobankrs121912605
1000 genomesrs121912605
hgdprs121912605
ensemblrs121912605
geneviewrs121912605
scholarrs121912605
googlers121912605
pharmgkbrs121912605
gwascentralrs121912605
openSNPrs121912605
23andMers121912605
SNPshotrs121912605
SNPdbers121912605
MSV3drs121912605
GWAS Ctlgrs121912605
Max Magnitude0
OMIM608414
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912605(T;T)
Alt rs121912605(T;T)
Reference Rs121912605(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene PLCE1
CLNDBN Nephrotic syndrome, type 3
Reversed 0
HGVS NC_000010.10:g.96030304C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002441.3,