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rs386833939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833939(G;T)
Make rs386833939(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35830956
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833939
ebirs386833939
HLIrs386833939
Exacrs386833939
Varsomers386833939
Maprs386833939
PheGenIrs386833939
hapmaprs386833939
1000 genomesrs386833939
hgdprs386833939
ensemblrs386833939
gopubmedrs386833939
geneviewrs386833939
scholarrs386833939
googlers386833939
pharmgkbrs386833939
gwascentralrs386833939
openSNPrs386833939
23andMers386833939
23andMe allrs386833939
SNP Nexus

SNPshotrs386833939
SNPdbers386833939
MSV3drs386833939
GWAS Ctlgrs386833939
Max Magnitude0
ClinVar
Risk rs386833939(T;T)
Alt rs386833939(T;T)
Reference rs386833939(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.36321858C>A
CLNSRC ClinVar
CLNACC RCV000049914.1,


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