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rs121912601

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912601(C;T)
Make rs121912601(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position94132444
GenePLCE1
is asnp
is mentioned by
dbSNPrs121912601
dbSNP (old)rs121912601
ClinGenrs121912601
ebirs121912601
HLIrs121912601
Exacrs121912601
Gnomadrs121912601
Varsomers121912601
Maprs121912601
PheGenIrs121912601
Biobankrs121912601
1000 genomesrs121912601
hgdprs121912601
ensemblrs121912601
gopubmedrs121912601
geneviewrs121912601
scholarrs121912601
googlers121912601
pharmgkbrs121912601
gwascentralrs121912601
openSNPrs121912601
23andMers121912601
23andMe allrs121912601
SNPshotrs121912601
SNPdbers121912601
MSV3drs121912601
GWAS Ctlgrs121912601
Max Magnitude0
OMIM608414
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912601(T;T)
Alt rs121912601(T;T)
Reference Rs121912601(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene PLCE1
CLNDBN Nephrotic syndrome, type 3
Reversed 0
HGVS NC_000010.10:g.95892201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002436.3,