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rs386833933

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833933(A;A)
Make rs386833933(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851340
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833933
ebirs386833933
HLIrs386833933
Exacrs386833933
Varsomers386833933
Maprs386833933
PheGenIrs386833933
hapmaprs386833933
1000 genomesrs386833933
hgdprs386833933
ensemblrs386833933
gopubmedrs386833933
geneviewrs386833933
scholarrs386833933
googlers386833933
pharmgkbrs386833933
gwascentralrs386833933
openSNPrs386833933
23andMers386833933
23andMe allrs386833933
SNP Nexus

SNPshotrs386833933
SNPdbers386833933
MSV3drs386833933
GWAS Ctlgrs386833933
Max Magnitude0
ClinVar
Risk rs386833933(A;A)
Alt rs386833933(A;A)
Reference rs386833933(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342242C>T
CLNSRC ClinVar
CLNACC RCV000049907.1,


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