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rs386833882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833882(-;-)
Make rs386833882(-;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851592
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833882
ebirs386833882
HLIrs386833882
Exacrs386833882
Varsomers386833882
Maprs386833882
PheGenIrs386833882
hapmaprs386833882
1000 genomesrs386833882
hgdprs386833882
ensemblrs386833882
gopubmedrs386833882
geneviewrs386833882
scholarrs386833882
googlers386833882
pharmgkbrs386833882
gwascentralrs386833882
openSNPrs386833882
23andMers386833882
23andMe allrs386833882
SNP Nexus

SNPshotrs386833882
SNPdbers386833882
MSV3drs386833882
GWAS Ctlgrs386833882
Max Magnitude0
ClinVar
Risk rs386833882(;)
Alt rs386833882(;)
Reference rs386833882(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342494delC
CLNSRC ClinVar
CLNACC RCV000049853.2,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.