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rs386833879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833879(A;A)
Make rs386833879(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848144
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833879
ebirs386833879
HLIrs386833879
Exacrs386833879
Varsomers386833879
Maprs386833879
PheGenIrs386833879
hapmaprs386833879
1000 genomesrs386833879
hgdprs386833879
ensemblrs386833879
gopubmedrs386833879
geneviewrs386833879
scholarrs386833879
googlers386833879
pharmgkbrs386833879
gwascentralrs386833879
openSNPrs386833879
23andMers386833879
23andMe allrs386833879
SNP Nexus

SNPshotrs386833879
SNPdbers386833879
MSV3drs386833879
GWAS Ctlgrs386833879
Max Magnitude0
ClinVar
Risk rs386833879(A;A)
Alt rs386833879(A;A)
Reference rs386833879(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339046A>T
CLNSRC ClinVar
CLNACC RCV000049850.1,


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