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rs191807913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs191807913(C;C)
Make rs191807913(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844371
GeneNPHS1
is asnp
is mentioned by
dbSNPrs191807913
ebirs191807913
HLIrs191807913
Exacrs191807913
Varsomers191807913
Maprs191807913
PheGenIrs191807913
hapmaprs191807913
1000 genomesrs191807913
hgdprs191807913
ensemblrs191807913
gopubmedrs191807913
geneviewrs191807913
scholarrs191807913
googlers191807913
pharmgkbrs191807913
gwascentralrs191807913
openSNPrs191807913
23andMers191807913
23andMe allrs191807913
SNP Nexus

SNPshotrs191807913
SNPdbers191807913
MSV3drs191807913
GWAS Ctlgrs191807913
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs191807913(C,T;C,T)
Alt rs191807913(C,T;C,T)
Reference rs191807913(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36335273G>T
CLNSRC ClinVar
CLNACC RCV000049871.1,


[PMID 20172850OA-icon.png] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).