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rs530318579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs530318579(C;T)
Make rs530318579(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position179559710
GeneNPHS2
is asnp
is mentioned by
dbSNPrs530318579
dbSNP (classic)rs530318579
ClinGenrs530318579
ebirs530318579
HLIrs530318579
Exacrs530318579
Gnomadrs530318579
Varsomers530318579
LitVarrs530318579
Maprs530318579
PheGenIrs530318579
Biobankrs530318579
1000 genomesrs530318579
hgdprs530318579
ensemblrs530318579
geneviewrs530318579
scholarrs530318579
googlers530318579
pharmgkbrs530318579
gwascentralrs530318579
openSNPrs530318579
23andMers530318579
SNPshotrs530318579
SNPdbers530318579
MSV3drs530318579
GWAS Ctlgrs530318579
Max Magnitude0
ClinVar
Risk rs530318579(T;T)
Alt rs530318579(T;T)
Reference Rs530318579(C;C)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 0
HGVS NC_000001.10:g.179528845C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169033.1,