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rs386833902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833902(G;G)
Make rs386833902(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844189
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833902
ebirs386833902
HLIrs386833902
Exacrs386833902
Varsomers386833902
Maprs386833902
PheGenIrs386833902
hapmaprs386833902
1000 genomesrs386833902
hgdprs386833902
ensemblrs386833902
gopubmedrs386833902
geneviewrs386833902
scholarrs386833902
googlers386833902
pharmgkbrs386833902
gwascentralrs386833902
openSNPrs386833902
23andMers386833902
23andMe allrs386833902
SNP Nexus

SNPshotrs386833902
SNPdbers386833902
MSV3drs386833902
GWAS Ctlgrs386833902
Max Magnitude0
ClinVar
Risk rs386833902(G;G)
Alt rs386833902(G;G)
Reference rs386833902(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.36335091A>C
CLNSRC ClinVar
CLNACC RCV000049875.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.