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rs386833918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833918(-;-)
Make rs386833918(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842272
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833918
ebirs386833918
HLIrs386833918
Exacrs386833918
Varsomers386833918
Maprs386833918
PheGenIrs386833918
hapmaprs386833918
1000 genomesrs386833918
hgdprs386833918
ensemblrs386833918
gopubmedrs386833918
geneviewrs386833918
scholarrs386833918
googlers386833918
pharmgkbrs386833918
gwascentralrs386833918
openSNPrs386833918
23andMers386833918
23andMe allrs386833918
SNP Nexus

SNPshotrs386833918
SNPdbers386833918
MSV3drs386833918
GWAS Ctlgrs386833918
Max Magnitude0
ClinVar
Risk rs386833918(;)
Alt rs386833918(;)
Reference rs386833918(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.36333174delG
CLNSRC ClinVar
CLNACC RCV000049892.1,


[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.