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rs386833898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833898(C;C)
Make rs386833898(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845370
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833898
ebirs386833898
HLIrs386833898
Exacrs386833898
Varsomers386833898
Maprs386833898
PheGenIrs386833898
hapmaprs386833898
1000 genomesrs386833898
hgdprs386833898
ensemblrs386833898
gopubmedrs386833898
geneviewrs386833898
scholarrs386833898
googlers386833898
pharmgkbrs386833898
gwascentralrs386833898
openSNPrs386833898
23andMers386833898
23andMe allrs386833898
SNP Nexus

SNPshotrs386833898
SNPdbers386833898
MSV3drs386833898
GWAS Ctlgrs386833898
Max Magnitude0
ClinVar
Risk rs386833898(C,G;C,G)
Alt rs386833898(C,G;C,G)
Reference rs386833898(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.36336272A>G
CLNSRC ClinVar
CLNACC RCV000049869.1,


[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.