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rs386833916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833916(C;C)
Make rs386833916(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842390
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833916
ebirs386833916
HLIrs386833916
Exacrs386833916
Varsomers386833916
Maprs386833916
PheGenIrs386833916
hapmaprs386833916
1000 genomesrs386833916
hgdprs386833916
ensemblrs386833916
gopubmedrs386833916
geneviewrs386833916
scholarrs386833916
googlers386833916
pharmgkbrs386833916
gwascentralrs386833916
openSNPrs386833916
23andMers386833916
23andMe allrs386833916
SNP Nexus

SNPshotrs386833916
SNPdbers386833916
MSV3drs386833916
GWAS Ctlgrs386833916
Max Magnitude0
ClinVar
Risk rs386833916(C;C)
Alt rs386833916(C;C)
Reference rs386833916(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333292A>G
CLNSRC ClinVar
CLNACC RCV000049890.1,


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