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rs386833908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833908(C;C)
Make rs386833908(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35843581
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833908
ebirs386833908
HLIrs386833908
Exacrs386833908
Varsomers386833908
Maprs386833908
PheGenIrs386833908
hapmaprs386833908
1000 genomesrs386833908
hgdprs386833908
ensemblrs386833908
gopubmedrs386833908
geneviewrs386833908
scholarrs386833908
googlers386833908
pharmgkbrs386833908
gwascentralrs386833908
openSNPrs386833908
23andMers386833908
23andMe allrs386833908
SNP Nexus

SNPshotrs386833908
SNPdbers386833908
MSV3drs386833908
GWAS Ctlgrs386833908
Max Magnitude0
ClinVar
Risk rs386833908(C;C)
Alt rs386833908(C;C)
Reference rs386833908(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36334483A>G
CLNSRC ClinVar
CLNACC RCV000049881.1,


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