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rs386833943

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833943(C;G)
Make rs386833943(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851019
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833943
ebirs386833943
HLIrs386833943
Exacrs386833943
Varsomers386833943
Maprs386833943
PheGenIrs386833943
hapmaprs386833943
1000 genomesrs386833943
hgdprs386833943
ensemblrs386833943
gopubmedrs386833943
geneviewrs386833943
scholarrs386833943
googlers386833943
pharmgkbrs386833943
gwascentralrs386833943
openSNPrs386833943
23andMers386833943
23andMe allrs386833943
SNP Nexus

SNPshotrs386833943
SNPdbers386833943
MSV3drs386833943
GWAS Ctlgrs386833943
Max Magnitude0
ClinVar
Risk rs386833943(G;G)
Alt rs386833943(G;G)
Reference rs386833943(C;C)
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.36341921G>C
CLNSRC ClinVar
CLNACC RCV000049918.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.