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rs1057516414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516414(C;T)
Make rs1057516414(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position179557080
GeneNPHS2
is asnp
is mentioned by
dbSNPrs1057516414
dbSNP (classic)rs1057516414
ClinGenrs1057516414
ebirs1057516414
HLIrs1057516414
Exacrs1057516414
Gnomadrs1057516414
Varsomers1057516414
LitVarrs1057516414
Maprs1057516414
PheGenIrs1057516414
Biobankrs1057516414
1000 genomesrs1057516414
hgdprs1057516414
ensemblrs1057516414
geneviewrs1057516414
scholarrs1057516414
googlers1057516414
pharmgkbrs1057516414
gwascentralrs1057516414
openSNPrs1057516414
23andMers1057516414
23andMe allrs1057516414
SNPshotrs1057516414
SNPdbers1057516414
MSV3drs1057516414
GWAS Ctlgrs1057516414
Max Magnitude0
ClinVar
Risk rs1057516414(T;T)
Alt rs1057516414(T;T)
Reference Rs1057516414(C;C)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179526215G>A
CLNSRC
CLNACC RCV000411024.1,