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rs386833892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833892(G;G)
Make rs386833892(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845538
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833892
ebirs386833892
HLIrs386833892
Exacrs386833892
Varsomers386833892
Maprs386833892
PheGenIrs386833892
hapmaprs386833892
1000 genomesrs386833892
hgdprs386833892
ensemblrs386833892
gopubmedrs386833892
geneviewrs386833892
scholarrs386833892
googlers386833892
pharmgkbrs386833892
gwascentralrs386833892
openSNPrs386833892
23andMers386833892
23andMe allrs386833892
SNP Nexus

SNPshotrs386833892
SNPdbers386833892
MSV3drs386833892
GWAS Ctlgrs386833892
Max Magnitude0
ClinVar
Risk rs386833892(G;G)
Alt rs386833892(G;G)
Reference rs386833892(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36336440A>C
CLNSRC ClinVar
CLNACC RCV000049863.1,


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