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rs386833936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833936(-;-)
Make rs386833936(-;G)
Make rs386833936(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35831678
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833936
ebirs386833936
HLIrs386833936
Exacrs386833936
Varsomers386833936
Maprs386833936
PheGenIrs386833936
hapmaprs386833936
1000 genomesrs386833936
hgdprs386833936
ensemblrs386833936
gopubmedrs386833936
geneviewrs386833936
scholarrs386833936
googlers386833936
pharmgkbrs386833936
gwascentralrs386833936
openSNPrs386833936
23andMers386833936
23andMe allrs386833936
SNP Nexus

SNPshotrs386833936
SNPdbers386833936
MSV3drs386833936
GWAS Ctlgrs386833936
Max Magnitude0
ClinVar
Risk rs386833936(G;G)
Alt rs386833936(G;G)
Reference rs386833936(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36322581dupC
CLNSRC ClinVar
CLNACC RCV000049910.1,


[PMID 9660941] Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.


[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 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.


[PMID 19194555OA-icon.png] Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.


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