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rs386833926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833926(C;T)
Make rs386833926(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35841747
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833926
ebirs386833926
HLIrs386833926
Exacrs386833926
Varsomers386833926
Maprs386833926
PheGenIrs386833926
hapmaprs386833926
1000 genomesrs386833926
hgdprs386833926
ensemblrs386833926
gopubmedrs386833926
geneviewrs386833926
scholarrs386833926
googlers386833926
pharmgkbrs386833926
gwascentralrs386833926
openSNPrs386833926
23andMers386833926
23andMe allrs386833926
SNP Nexus

SNPshotrs386833926
SNPdbers386833926
MSV3drs386833926
GWAS Ctlgrs386833926
Max Magnitude0
ClinVar
Risk rs386833926(A,T;A,T)
Alt rs386833926(A,T;A,T)
Reference rs386833926(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.36332649G>T
CLNSRC ClinVar
CLNACC RCV000049900.1,


[PMID 22009864] Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.