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rs78541594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78541594(C;C)
Make rs78541594(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position179575916
GeneNPHS2
is asnp
is mentioned by
dbSNPrs78541594
dbSNP (classic)rs78541594
ClinGenrs78541594
ebirs78541594
HLIrs78541594
Exacrs78541594
Gnomadrs78541594
Varsomers78541594
LitVarrs78541594
Maprs78541594
PheGenIrs78541594
Biobankrs78541594
1000 genomesrs78541594
hgdprs78541594
ensemblrs78541594
geneviewrs78541594
scholarrs78541594
googlers78541594
pharmgkbrs78541594
gwascentralrs78541594
openSNPrs78541594
23andMers78541594
SNPshotrs78541594
SNPdbers78541594
MSV3drs78541594
GWAS Ctlgrs78541594
Max Magnitude0
ClinVar
Risk rs78541594(C;C)
Alt rs78541594(C;C)
Reference Rs78541594(G;G)
Significance Pathogenic
Disease Nephrotic syndrome Steroid-resistant nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant Steroid-resistant nephrotic syndrome
Reversed 0
HGVS NC_000001.10:g.179545051G>C
CLNSRC
CLNACC RCV000210779.1, RCV000273220.1,