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rs386833863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833863(C;C)
Make rs386833863(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848759
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833863
ebirs386833863
HLIrs386833863
Exacrs386833863
Varsomers386833863
Maprs386833863
PheGenIrs386833863
hapmaprs386833863
1000 genomesrs386833863
hgdprs386833863
ensemblrs386833863
gopubmedrs386833863
geneviewrs386833863
scholarrs386833863
googlers386833863
pharmgkbrs386833863
gwascentralrs386833863
openSNPrs386833863
23andMers386833863
23andMe allrs386833863
SNP Nexus

SNPshotrs386833863
SNPdbers386833863
MSV3drs386833863
GWAS Ctlgrs386833863
Max Magnitude0
ClinVar
Risk rs386833863(C;C)
Alt rs386833863(C;C)
Reference rs386833863(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.36339661A>G
CLNSRC ClinVar
CLNACC RCV000049832.2,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.


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