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rs143092783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143092783(G;T)
Make rs143092783(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831116
GeneNPHS1
is asnp
is mentioned by
dbSNPrs143092783
ebirs143092783
HLIrs143092783
Exacrs143092783
Varsomers143092783
Maprs143092783
PheGenIrs143092783
hapmaprs143092783
1000 genomesrs143092783
hgdprs143092783
ensemblrs143092783
gopubmedrs143092783
geneviewrs143092783
scholarrs143092783
googlers143092783
pharmgkbrs143092783
gwascentralrs143092783
openSNPrs143092783
23andMers143092783
23andMe allrs143092783
SNP Nexus

SNPshotrs143092783
SNPdbers143092783
MSV3drs143092783
GWAS Ctlgrs143092783
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs143092783(A,T;A,T)
Alt rs143092783(A,T;A,T)
Reference rs143092783(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.36322018G>A
CLNSRC ClinVar
CLNACC RCV000049913.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.


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