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rs386833864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833864(A;C)
Make rs386833864(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848711
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833864
ebirs386833864
HLIrs386833864
Exacrs386833864
Varsomers386833864
Maprs386833864
PheGenIrs386833864
hapmaprs386833864
1000 genomesrs386833864
hgdprs386833864
ensemblrs386833864
gopubmedrs386833864
geneviewrs386833864
scholarrs386833864
googlers386833864
pharmgkbrs386833864
gwascentralrs386833864
openSNPrs386833864
23andMers386833864
23andMe allrs386833864
SNP Nexus

SNPshotrs386833864
SNPdbers386833864
MSV3drs386833864
GWAS Ctlgrs386833864
Max Magnitude0
ClinVar
Risk rs386833864(C;C)
Alt rs386833864(C;C)
Reference rs386833864(A;A)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339613T>G
CLNSRC ClinVar
CLNACC RCV000049833.1,


[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).