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rs386833869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833869(A;A)
Make rs386833869(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848673
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833869
ebirs386833869
HLIrs386833869
Exacrs386833869
Varsomers386833869
Maprs386833869
PheGenIrs386833869
hapmaprs386833869
1000 genomesrs386833869
hgdprs386833869
ensemblrs386833869
gopubmedrs386833869
geneviewrs386833869
scholarrs386833869
googlers386833869
pharmgkbrs386833869
gwascentralrs386833869
openSNPrs386833869
23andMers386833869
23andMe allrs386833869
SNP Nexus

SNPshotrs386833869
SNPdbers386833869
MSV3drs386833869
GWAS Ctlgrs386833869
Max Magnitude0
ClinVar
Risk rs386833869(A,T;A,T)
Alt rs386833869(A,T;A,T)
Reference rs386833869(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.36339575C>T
CLNSRC ClinVar
CLNACC RCV000049839.1,


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