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rs386833934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833934(C;T)
Make rs386833934(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851339
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833934
ebirs386833934
HLIrs386833934
Exacrs386833934
Varsomers386833934
Maprs386833934
PheGenIrs386833934
hapmaprs386833934
1000 genomesrs386833934
hgdprs386833934
ensemblrs386833934
gopubmedrs386833934
geneviewrs386833934
scholarrs386833934
googlers386833934
pharmgkbrs386833934
gwascentralrs386833934
openSNPrs386833934
23andMers386833934
23andMe allrs386833934
SNP Nexus

SNPshotrs386833934
SNPdbers386833934
MSV3drs386833934
GWAS Ctlgrs386833934
Max Magnitude0
ClinVar
Risk rs386833934(T;T)
Alt rs386833934(T;T)
Reference rs386833934(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.36342241G>A
CLNSRC ClinVar
CLNACC RCV000049908.1,


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