Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912602(C;T)
Make rs121912602(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position94254256
GenePLCE1
is asnp
is mentioned by
dbSNPrs121912602
dbSNP (classic)rs121912602
ClinGenrs121912602
ebirs121912602
HLIrs121912602
Exacrs121912602
Gnomadrs121912602
Varsomers121912602
LitVarrs121912602
Maprs121912602
PheGenIrs121912602
Biobankrs121912602
1000 genomesrs121912602
hgdprs121912602
ensemblrs121912602
geneviewrs121912602
scholarrs121912602
googlers121912602
pharmgkbrs121912602
gwascentralrs121912602
openSNPrs121912602
23andMers121912602
SNPshotrs121912602
SNPdbers121912602
MSV3drs121912602
GWAS Ctlgrs121912602
Max Magnitude0
OMIM608414
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912602(G;G) rs121912602(T;T)
Alt rs121912602(G;G) rs121912602(T;T)
Reference Rs121912602(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene PLCE1
CLNDBN Nephrotic syndrome, type 3
Reversed 0
HGVS NC_000010.10:g.96014013C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002437.3,