Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833899(C;T)
Make rs386833899(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844436
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833899
ebirs386833899
HLIrs386833899
Exacrs386833899
Varsomers386833899
Maprs386833899
PheGenIrs386833899
hapmaprs386833899
1000 genomesrs386833899
hgdprs386833899
ensemblrs386833899
gopubmedrs386833899
geneviewrs386833899
scholarrs386833899
googlers386833899
pharmgkbrs386833899
gwascentralrs386833899
openSNPrs386833899
23andMers386833899
23andMe allrs386833899
SNP Nexus

SNPshotrs386833899
SNPdbers386833899
MSV3drs386833899
GWAS Ctlgrs386833899
Max Magnitude0
ClinVar
Risk rs386833899(T;T)
Alt rs386833899(T;T)
Reference rs386833899(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.36335338G>A
CLNSRC ClinVar
CLNACC RCV000049870.1,


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