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rs386833945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833945(C;T)
Make rs386833945(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35850987
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833945
ebirs386833945
HLIrs386833945
Exacrs386833945
Varsomers386833945
Maprs386833945
PheGenIrs386833945
hapmaprs386833945
1000 genomesrs386833945
hgdprs386833945
ensemblrs386833945
gopubmedrs386833945
geneviewrs386833945
scholarrs386833945
googlers386833945
pharmgkbrs386833945
gwascentralrs386833945
openSNPrs386833945
23andMers386833945
23andMe allrs386833945
SNP Nexus

SNPshotrs386833945
SNPdbers386833945
MSV3drs386833945
GWAS Ctlgrs386833945
Max Magnitude0
ClinVar
Risk rs386833945(T;T)
Alt rs386833945(T;T)
Reference rs386833945(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.36341889G>A
CLNSRC ClinVar
CLNACC RCV000049920.1,


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