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rs386833896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833896(C;T)
Make rs386833896(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845393
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833896
ebirs386833896
HLIrs386833896
Exacrs386833896
Varsomers386833896
Maprs386833896
PheGenIrs386833896
hapmaprs386833896
1000 genomesrs386833896
hgdprs386833896
ensemblrs386833896
gopubmedrs386833896
geneviewrs386833896
scholarrs386833896
googlers386833896
pharmgkbrs386833896
gwascentralrs386833896
openSNPrs386833896
23andMers386833896
23andMe allrs386833896
SNP Nexus

SNPshotrs386833896
SNPdbers386833896
MSV3drs386833896
GWAS Ctlgrs386833896
Max Magnitude0
ClinVar
Risk rs386833896(T;T)
Alt rs386833896(T;T)
Reference rs386833896(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.36336295G>A
CLNSRC ClinVar
CLNACC RCV000049867.1,


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