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rs386833910

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833910(-;-)
Make rs386833910(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35843579
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833910
ebirs386833910
HLIrs386833910
Exacrs386833910
Varsomers386833910
Maprs386833910
PheGenIrs386833910
hapmaprs386833910
1000 genomesrs386833910
hgdprs386833910
ensemblrs386833910
gopubmedrs386833910
geneviewrs386833910
scholarrs386833910
googlers386833910
pharmgkbrs386833910
gwascentralrs386833910
openSNPrs386833910
23andMers386833910
23andMe allrs386833910
SNP Nexus

SNPshotrs386833910
SNPdbers386833910
MSV3drs386833910
GWAS Ctlgrs386833910
Max Magnitude0
ClinVar
Risk rs386833910(;)
Alt rs386833910(;)
Reference rs386833910(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.36334481delG
CLNSRC ClinVar
CLNACC RCV000049883.1,


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