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rs386833947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
Make rs386833947(-;-)
Make rs386833947(-;CCA)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850970
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833947
ebirs386833947
HLIrs386833947
Exacrs386833947
Varsomers386833947
Maprs386833947
PheGenIrs386833947
hapmaprs386833947
1000 genomesrs386833947
hgdprs386833947
ensemblrs386833947
gopubmedrs386833947
geneviewrs386833947
scholarrs386833947
googlers386833947
pharmgkbrs386833947
gwascentralrs386833947
openSNPrs386833947
23andMers386833947
23andMe allrs386833947
SNP Nexus

SNPshotrs386833947
SNPdbers386833947
MSV3drs386833947
GWAS Ctlgrs386833947
Max Magnitude0
ClinVar
Risk rs386833947(;)
Alt rs386833947(;)
Reference rs386833947(CCA;CCA)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36341872_36341874delTGG
CLNSRC ClinVar
CLNACC RCV000049922.2,


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


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.


[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).