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rs386833874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833874(C;T)
Make rs386833874(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848349
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833874
ebirs386833874
HLIrs386833874
Exacrs386833874
Varsomers386833874
Maprs386833874
PheGenIrs386833874
hapmaprs386833874
1000 genomesrs386833874
hgdprs386833874
ensemblrs386833874
gopubmedrs386833874
geneviewrs386833874
scholarrs386833874
googlers386833874
pharmgkbrs386833874
gwascentralrs386833874
openSNPrs386833874
23andMers386833874
23andMe allrs386833874
SNP Nexus

SNPshotrs386833874
SNPdbers386833874
MSV3drs386833874
GWAS Ctlgrs386833874
Max Magnitude0
ClinVar
Risk rs386833874(T;T)
Alt rs386833874(T;T)
Reference rs386833874(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.36339251G>A
CLNSRC ClinVar
CLNACC RCV000049843.1,


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