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rs386833893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833893(C;C)
Make rs386833893(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845497
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833893
ebirs386833893
HLIrs386833893
Exacrs386833893
Varsomers386833893
Maprs386833893
PheGenIrs386833893
hapmaprs386833893
1000 genomesrs386833893
hgdprs386833893
ensemblrs386833893
gopubmedrs386833893
geneviewrs386833893
scholarrs386833893
googlers386833893
pharmgkbrs386833893
gwascentralrs386833893
openSNPrs386833893
23andMers386833893
23andMe allrs386833893
SNP Nexus

SNPshotrs386833893
SNPdbers386833893
MSV3drs386833893
GWAS Ctlgrs386833893
Max Magnitude0
ClinVar
Risk rs386833893(C;C)
Alt rs386833893(C;C)
Reference rs386833893(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.36336399C>G
CLNSRC ClinVar
CLNACC RCV000049864.1,


[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.