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rs386833865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833865(C;T)
Make rs386833865(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848708
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833865
ebirs386833865
HLIrs386833865
Exacrs386833865
Varsomers386833865
Maprs386833865
PheGenIrs386833865
hapmaprs386833865
1000 genomesrs386833865
hgdprs386833865
ensemblrs386833865
gopubmedrs386833865
geneviewrs386833865
scholarrs386833865
googlers386833865
pharmgkbrs386833865
gwascentralrs386833865
openSNPrs386833865
23andMers386833865
23andMe allrs386833865
SNP Nexus

SNPshotrs386833865
SNPdbers386833865
MSV3drs386833865
GWAS Ctlgrs386833865
Max Magnitude0
ClinVar
Risk rs386833865(T;T)
Alt rs386833865(T;T)
Reference rs386833865(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339610G>A
CLNSRC ClinVar
CLNACC RCV000049834.1,


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