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rs386833953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833953(C;T)
Make rs386833953(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850398
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833953
ebirs386833953
HLIrs386833953
Exacrs386833953
Varsomers386833953
Maprs386833953
PheGenIrs386833953
hapmaprs386833953
1000 genomesrs386833953
hgdprs386833953
ensemblrs386833953
gopubmedrs386833953
geneviewrs386833953
scholarrs386833953
googlers386833953
pharmgkbrs386833953
gwascentralrs386833953
openSNPrs386833953
23andMers386833953
23andMe allrs386833953
SNP Nexus

SNPshotrs386833953
SNPdbers386833953
MSV3drs386833953
GWAS Ctlgrs386833953
Max Magnitude0
ClinVar
Risk rs386833953(T;T)
Alt rs386833953(T;T)
Reference rs386833953(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36341300G>A
CLNSRC ClinVar
CLNACC RCV000049928.1,


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