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rs386833877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833877(-;-)
Make rs386833877(-;A)
Make rs386833877(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848275
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833877
ebirs386833877
HLIrs386833877
Exacrs386833877
Varsomers386833877
Maprs386833877
PheGenIrs386833877
hapmaprs386833877
1000 genomesrs386833877
hgdprs386833877
ensemblrs386833877
gopubmedrs386833877
geneviewrs386833877
scholarrs386833877
googlers386833877
pharmgkbrs386833877
gwascentralrs386833877
openSNPrs386833877
23andMers386833877
23andMe allrs386833877
SNP Nexus

SNPshotrs386833877
SNPdbers386833877
MSV3drs386833877
GWAS Ctlgrs386833877
Max Magnitude0
ClinVar
Risk rs386833877(A;A)
Alt rs386833877(A;A)
Reference rs386833877(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339178dupT
CLNSRC ClinVar
CLNACC RCV000049848.1,


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