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rs386833884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833884(C;T)
Make rs386833884(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35846080
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833884
ebirs386833884
HLIrs386833884
Exacrs386833884
Varsomers386833884
Maprs386833884
PheGenIrs386833884
hapmaprs386833884
1000 genomesrs386833884
hgdprs386833884
ensemblrs386833884
gopubmedrs386833884
geneviewrs386833884
scholarrs386833884
googlers386833884
pharmgkbrs386833884
gwascentralrs386833884
openSNPrs386833884
23andMers386833884
23andMe allrs386833884
SNP Nexus

SNPshotrs386833884
SNPdbers386833884
MSV3drs386833884
GWAS Ctlgrs386833884
Max Magnitude0
ClinVar
Risk rs386833884(T;T)
Alt rs386833884(T;T)
Reference rs386833884(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.36336982G>A
CLNSRC ClinVar
CLNACC RCV000049855.1,


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