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rs386833895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833895(G;T)
Make rs386833895(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845430
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833895
ebirs386833895
HLIrs386833895
Exacrs386833895
Varsomers386833895
Maprs386833895
PheGenIrs386833895
hapmaprs386833895
1000 genomesrs386833895
hgdprs386833895
ensemblrs386833895
gopubmedrs386833895
geneviewrs386833895
scholarrs386833895
googlers386833895
pharmgkbrs386833895
gwascentralrs386833895
openSNPrs386833895
23andMers386833895
23andMe allrs386833895
SNP Nexus

SNPshotrs386833895
SNPdbers386833895
MSV3drs386833895
GWAS Ctlgrs386833895
Max Magnitude0
ClinVar
Risk rs386833895(T;T)
Alt rs386833895(T;T)
Reference rs386833895(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.36336332C>A
CLNSRC ClinVar
CLNACC RCV000049866.2,


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


[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.


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