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rs1057517413

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517413(C;C)
Make rs1057517413(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35848795
GeneNPHS1
is asnp
is mentioned by
dbSNPrs1057517413
dbSNP (old)rs1057517413
ClinGenrs1057517413
ebirs1057517413
HLIrs1057517413
Exacrs1057517413
Gnomadrs1057517413
Varsomers1057517413
Maprs1057517413
PheGenIrs1057517413
Biobankrs1057517413
1000 genomesrs1057517413
hgdprs1057517413
ensemblrs1057517413
gopubmedrs1057517413
geneviewrs1057517413
scholarrs1057517413
googlers1057517413
pharmgkbrs1057517413
gwascentralrs1057517413
openSNPrs1057517413
23andMers1057517413
23andMe allrs1057517413
SNPshotrs1057517413
SNPdbers1057517413
MSV3drs1057517413
GWAS Ctlgrs1057517413
Max Magnitude0
ClinVar
Risk rs1057517413(C;C)
Alt rs1057517413(C;C)
Reference Rs1057517413(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339697C>G
CLNSRC
CLNACC RCV000410344.1,