Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833861(A;A)
Make rs386833861(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848788
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833861
ebirs386833861
HLIrs386833861
Exacrs386833861
Varsomers386833861
Maprs386833861
PheGenIrs386833861
hapmaprs386833861
1000 genomesrs386833861
hgdprs386833861
ensemblrs386833861
gopubmedrs386833861
geneviewrs386833861
scholarrs386833861
googlers386833861
pharmgkbrs386833861
gwascentralrs386833861
openSNPrs386833861
23andMers386833861
23andMe allrs386833861
SNP Nexus

SNPshotrs386833861
SNPdbers386833861
MSV3drs386833861
GWAS Ctlgrs386833861
Max Magnitude0
ClinVar
Risk rs386833861(A;A)
Alt rs386833861(A;A)
Reference rs386833861(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339690G>T
CLNSRC ClinVar
CLNACC RCV000049830.1,


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