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rs386833889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833889(A;A)
Make rs386833889(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845711
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833889
ebirs386833889
HLIrs386833889
Exacrs386833889
Varsomers386833889
Maprs386833889
PheGenIrs386833889
hapmaprs386833889
1000 genomesrs386833889
hgdprs386833889
ensemblrs386833889
gopubmedrs386833889
geneviewrs386833889
scholarrs386833889
googlers386833889
pharmgkbrs386833889
gwascentralrs386833889
openSNPrs386833889
23andMers386833889
23andMe allrs386833889
SNP Nexus

SNPshotrs386833889
SNPdbers386833889
MSV3drs386833889
GWAS Ctlgrs386833889
Max Magnitude0
ClinVar
Risk rs386833889(A;A)
Alt rs386833889(A;A)
Reference rs386833889(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.36336613C>T
CLNSRC ClinVar
CLNACC RCV000049860.1,


[PMID 15906409] Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.


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