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rs386833880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833880(A;A)
Make rs386833880(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848102
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833880
ebirs386833880
HLIrs386833880
Exacrs386833880
Varsomers386833880
Maprs386833880
PheGenIrs386833880
hapmaprs386833880
1000 genomesrs386833880
hgdprs386833880
ensemblrs386833880
gopubmedrs386833880
geneviewrs386833880
scholarrs386833880
googlers386833880
pharmgkbrs386833880
gwascentralrs386833880
openSNPrs386833880
23andMers386833880
23andMe allrs386833880
SNP Nexus

SNPshotrs386833880
SNPdbers386833880
MSV3drs386833880
GWAS Ctlgrs386833880
Max Magnitude0
ClinVar
Risk rs386833880(A;A)
Alt rs386833880(A;A)
Reference rs386833880(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.36339004C>T
CLNSRC ClinVar
CLNACC RCV000049851.2,


[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 15780077] Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.


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


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant 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).