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rs386833886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833886(C;T)
Make rs386833886(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845754
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833886
ebirs386833886
HLIrs386833886
Exacrs386833886
Varsomers386833886
Maprs386833886
PheGenIrs386833886
hapmaprs386833886
1000 genomesrs386833886
hgdprs386833886
ensemblrs386833886
gopubmedrs386833886
geneviewrs386833886
scholarrs386833886
googlers386833886
pharmgkbrs386833886
gwascentralrs386833886
openSNPrs386833886
23andMers386833886
23andMe allrs386833886
SNP Nexus

SNPshotrs386833886
SNPdbers386833886
MSV3drs386833886
GWAS Ctlgrs386833886
Max Magnitude0
ClinVar
Risk rs386833886(T;T)
Alt rs386833886(T;T)
Reference rs386833886(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.36336656G>A
CLNSRC ClinVar
CLNACC RCV000049857.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.


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