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rs386833873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs386833873(-;-)
Make rs386833873(-;CT)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851609
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833873
ebirs386833873
HLIrs386833873
Exacrs386833873
Varsomers386833873
Maprs386833873
PheGenIrs386833873
hapmaprs386833873
1000 genomesrs386833873
hgdprs386833873
ensemblrs386833873
gopubmedrs386833873
geneviewrs386833873
scholarrs386833873
googlers386833873
pharmgkbrs386833873
gwascentralrs386833873
openSNPrs386833873
23andMers386833873
23andMe allrs386833873
SNP Nexus

SNPshotrs386833873
SNPdbers386833873
MSV3drs386833873
GWAS Ctlgrs386833873
Max Magnitude0
ClinVar
Risk rs386833873(;)
Alt rs386833873(;)
Reference rs386833873(CT;CT)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342511_36342512delAG
CLNSRC ClinVar
CLNACC RCV000049844.2,


[PMID 9660941] Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.