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rs386833942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833942(A;A)
Make rs386833942(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851090
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833942
ebirs386833942
HLIrs386833942
Exacrs386833942
Varsomers386833942
Maprs386833942
PheGenIrs386833942
hapmaprs386833942
1000 genomesrs386833942
hgdprs386833942
ensemblrs386833942
gopubmedrs386833942
geneviewrs386833942
scholarrs386833942
googlers386833942
pharmgkbrs386833942
gwascentralrs386833942
openSNPrs386833942
23andMers386833942
23andMe allrs386833942
SNP Nexus

SNPshotrs386833942
SNPdbers386833942
MSV3drs386833942
GWAS Ctlgrs386833942
Max Magnitude0
ClinVar
Risk rs386833942(A;A)
Alt rs386833942(A;A)
Reference rs386833942(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.36341992C>T
CLNSRC ClinVar
CLNACC RCV000049917.1,


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