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rs386833962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833962(A;A)
Make rs386833962(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849102
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833962
ebirs386833962
HLIrs386833962
Exacrs386833962
Varsomers386833962
Maprs386833962
PheGenIrs386833962
hapmaprs386833962
1000 genomesrs386833962
hgdprs386833962
ensemblrs386833962
gopubmedrs386833962
geneviewrs386833962
scholarrs386833962
googlers386833962
pharmgkbrs386833962
gwascentralrs386833962
openSNPrs386833962
23andMers386833962
23andMe allrs386833962
SNP Nexus

SNPshotrs386833962
SNPdbers386833962
MSV3drs386833962
GWAS Ctlgrs386833962
Max Magnitude0
ClinVar
Risk rs386833962(A;A)
Alt rs386833962(A;A)
Reference rs386833962(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36340004C>T
CLNSRC ClinVar
CLNACC RCV000049937.1,


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