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rs386833923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833923(A;A)
Make rs386833923(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842162
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833923
ebirs386833923
HLIrs386833923
Exacrs386833923
Varsomers386833923
Maprs386833923
PheGenIrs386833923
hapmaprs386833923
1000 genomesrs386833923
hgdprs386833923
ensemblrs386833923
gopubmedrs386833923
geneviewrs386833923
scholarrs386833923
googlers386833923
pharmgkbrs386833923
gwascentralrs386833923
openSNPrs386833923
23andMers386833923
23andMe allrs386833923
SNP Nexus

SNPshotrs386833923
SNPdbers386833923
MSV3drs386833923
GWAS Ctlgrs386833923
Max Magnitude0
ClinVar
Risk rs386833923(A;A)
Alt rs386833923(A;A)
Reference rs386833923(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.36333064C>T
CLNSRC ClinVar
CLNACC RCV000049897.1,


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