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rs386833900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833900(G;T)
Make rs386833900(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844347
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833900
ebirs386833900
HLIrs386833900
Exacrs386833900
Varsomers386833900
Maprs386833900
PheGenIrs386833900
hapmaprs386833900
1000 genomesrs386833900
hgdprs386833900
ensemblrs386833900
gopubmedrs386833900
geneviewrs386833900
scholarrs386833900
googlers386833900
pharmgkbrs386833900
gwascentralrs386833900
openSNPrs386833900
23andMers386833900
23andMe allrs386833900
SNP Nexus

SNPshotrs386833900
SNPdbers386833900
MSV3drs386833900
GWAS Ctlgrs386833900
Max Magnitude0
ClinVar
Risk rs386833900(T;T)
Alt rs386833900(T;T)
Reference rs386833900(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.36335249C>A
CLNSRC ClinVar
CLNACC RCV000049872.1,


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