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rs386833909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833909(C;T)
Make rs386833909(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35843579
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833909
ebirs386833909
HLIrs386833909
Exacrs386833909
Varsomers386833909
Maprs386833909
PheGenIrs386833909
hapmaprs386833909
1000 genomesrs386833909
hgdprs386833909
ensemblrs386833909
gopubmedrs386833909
geneviewrs386833909
scholarrs386833909
googlers386833909
pharmgkbrs386833909
gwascentralrs386833909
openSNPrs386833909
23andMers386833909
23andMe allrs386833909
SNP Nexus

SNPshotrs386833909
SNPdbers386833909
MSV3drs386833909
GWAS Ctlgrs386833909
Max Magnitude0
ClinVar
Risk rs386833909(T;T)
Alt rs386833909(T;T)
Reference rs386833909(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.36334481G>A
CLNSRC ClinVar
CLNACC RCV000049882.1,


[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.