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rs386833957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386833957(-;-)
Make rs386833957(-;AG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849600
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833957
ebirs386833957
HLIrs386833957
Exacrs386833957
Varsomers386833957
Maprs386833957
PheGenIrs386833957
hapmaprs386833957
1000 genomesrs386833957
hgdprs386833957
ensemblrs386833957
gopubmedrs386833957
geneviewrs386833957
scholarrs386833957
googlers386833957
pharmgkbrs386833957
gwascentralrs386833957
openSNPrs386833957
23andMers386833957
23andMe allrs386833957
SNP Nexus

SNPshotrs386833957
SNPdbers386833957
MSV3drs386833957
GWAS Ctlgrs386833957
Max Magnitude0
ClinVar
Risk rs386833957(;)
Alt rs386833957(;)
Reference rs386833957(AG;AG)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36340502_36340503delCT
CLNSRC ClinVar
CLNACC RCV000049932.1,


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