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rs386833929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833929(C;G)
Make rs386833929(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851373
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833929
ebirs386833929
HLIrs386833929
Exacrs386833929
Varsomers386833929
Maprs386833929
PheGenIrs386833929
hapmaprs386833929
1000 genomesrs386833929
hgdprs386833929
ensemblrs386833929
gopubmedrs386833929
geneviewrs386833929
scholarrs386833929
googlers386833929
pharmgkbrs386833929
gwascentralrs386833929
openSNPrs386833929
23andMers386833929
23andMe allrs386833929
SNP Nexus

SNPshotrs386833929
SNPdbers386833929
MSV3drs386833929
GWAS Ctlgrs386833929
Max Magnitude0
ClinVar
Risk rs386833929(G;G)
Alt rs386833929(G;G)
Reference rs386833929(C;C)
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.36342275G>C
CLNSRC ClinVar
CLNACC RCV000049903.1,


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