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rs386833890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833890(A;A)
Make rs386833890(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35845702
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833890
ebirs386833890
HLIrs386833890
Exacrs386833890
Varsomers386833890
Maprs386833890
PheGenIrs386833890
hapmaprs386833890
1000 genomesrs386833890
hgdprs386833890
ensemblrs386833890
gopubmedrs386833890
geneviewrs386833890
scholarrs386833890
googlers386833890
pharmgkbrs386833890
gwascentralrs386833890
openSNPrs386833890
23andMers386833890
23andMe allrs386833890
SNP Nexus

SNPshotrs386833890
SNPdbers386833890
MSV3drs386833890
GWAS Ctlgrs386833890
Max Magnitude0
ClinVar
Risk rs386833890(A;A)
Alt rs386833890(A;A)
Reference rs386833890(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36336604G>T
CLNSRC ClinVar
CLNACC RCV000049861.1,


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.