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rs386833870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs386833870(-;-)
Make rs386833870(-;CG)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848671
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833870
ebirs386833870
HLIrs386833870
Exacrs386833870
Varsomers386833870
Maprs386833870
PheGenIrs386833870
hapmaprs386833870
1000 genomesrs386833870
hgdprs386833870
ensemblrs386833870
gopubmedrs386833870
geneviewrs386833870
scholarrs386833870
googlers386833870
pharmgkbrs386833870
gwascentralrs386833870
openSNPrs386833870
23andMers386833870
23andMe allrs386833870
SNP Nexus

SNPshotrs386833870
SNPdbers386833870
MSV3drs386833870
GWAS Ctlgrs386833870
Max Magnitude0
ClinVar
Risk rs386833870(;)
Alt rs386833870(;)
Reference rs386833870(CG;CG)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339573_36339574delCG
CLNSRC ClinVar
CLNACC RCV000049841.1,


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