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rs386833876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833876(-;-)
Make rs386833876(-;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848293
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833876
ebirs386833876
HLIrs386833876
Exacrs386833876
Varsomers386833876
Maprs386833876
PheGenIrs386833876
hapmaprs386833876
1000 genomesrs386833876
hgdprs386833876
ensemblrs386833876
gopubmedrs386833876
geneviewrs386833876
scholarrs386833876
googlers386833876
pharmgkbrs386833876
gwascentralrs386833876
openSNPrs386833876
23andMers386833876
23andMe allrs386833876
SNP Nexus

SNPshotrs386833876
SNPdbers386833876
MSV3drs386833876
GWAS Ctlgrs386833876
Max Magnitude0
ClinVar
Risk rs386833876(;)
Alt rs386833876(;)
Reference rs386833876(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.36339195delG
CLNSRC ClinVar
CLNACC RCV000049847.1,


[PMID 9915943OA-icon.png] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.