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rs386833887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833887(A;A)
Make rs386833887(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845725
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833887
ebirs386833887
HLIrs386833887
Exacrs386833887
Varsomers386833887
Maprs386833887
PheGenIrs386833887
hapmaprs386833887
1000 genomesrs386833887
hgdprs386833887
ensemblrs386833887
gopubmedrs386833887
geneviewrs386833887
scholarrs386833887
googlers386833887
pharmgkbrs386833887
gwascentralrs386833887
openSNPrs386833887
23andMers386833887
23andMe allrs386833887
SNP Nexus

SNPshotrs386833887
SNPdbers386833887
MSV3drs386833887
GWAS Ctlgrs386833887
Max Magnitude0
ClinVar
Risk rs386833887(A;A)
Alt rs386833887(A;A)
Reference rs386833887(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.36336627G>T
CLNSRC ClinVar
CLNACC RCV000049858.2,


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