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rs386833927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833927(A;A)
Make rs386833927(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35841710
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833927
ebirs386833927
HLIrs386833927
Exacrs386833927
Varsomers386833927
Maprs386833927
PheGenIrs386833927
hapmaprs386833927
1000 genomesrs386833927
hgdprs386833927
ensemblrs386833927
gopubmedrs386833927
geneviewrs386833927
scholarrs386833927
googlers386833927
pharmgkbrs386833927
gwascentralrs386833927
openSNPrs386833927
23andMers386833927
23andMe allrs386833927
SNP Nexus

SNPshotrs386833927
SNPdbers386833927
MSV3drs386833927
GWAS Ctlgrs386833927
Max Magnitude0
ClinVar
Risk rs386833927(A;A)
Alt rs386833927(A;A)
Reference rs386833927(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.36332612C>T
CLNSRC ClinVar
CLNACC RCV000049901.1,


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