Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833878(-;-)
Make rs386833878(-;AC)
Make rs386833878(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848259
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833878
ebirs386833878
HLIrs386833878
Exacrs386833878
Varsomers386833878
Maprs386833878
PheGenIrs386833878
hapmaprs386833878
1000 genomesrs386833878
hgdprs386833878
ensemblrs386833878
gopubmedrs386833878
geneviewrs386833878
scholarrs386833878
googlers386833878
pharmgkbrs386833878
gwascentralrs386833878
openSNPrs386833878
23andMers386833878
23andMe allrs386833878
SNP Nexus

SNPshotrs386833878
SNPdbers386833878
MSV3drs386833878
GWAS Ctlgrs386833878
Max Magnitude0
ClinVar
Risk rs386833878(AC;AC)
Alt rs386833878(AC;AC)
Reference rs386833878(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339162_36339163dupGT
CLNSRC ClinVar
CLNACC RCV000049849.1,


[PMID 9660941] Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.


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


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.