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rs386833901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833901(C;C)
Make rs386833901(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844317
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833901
ebirs386833901
HLIrs386833901
Exacrs386833901
Varsomers386833901
Maprs386833901
PheGenIrs386833901
hapmaprs386833901
1000 genomesrs386833901
hgdprs386833901
ensemblrs386833901
gopubmedrs386833901
geneviewrs386833901
scholarrs386833901
googlers386833901
pharmgkbrs386833901
gwascentralrs386833901
openSNPrs386833901
23andMers386833901
23andMe allrs386833901
SNP Nexus

SNPshotrs386833901
SNPdbers386833901
MSV3drs386833901
GWAS Ctlgrs386833901
Max Magnitude0
ClinVar
Risk rs386833901(C;C)
Alt rs386833901(C;C)
Reference rs386833901(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.36335219A>G
CLNSRC ClinVar
CLNACC RCV000049873.1,


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