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

rs386833881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833881(A;A)
Make rs386833881(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848087
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833881
ebirs386833881
HLIrs386833881
Exacrs386833881
Varsomers386833881
Maprs386833881
PheGenIrs386833881
hapmaprs386833881
1000 genomesrs386833881
hgdprs386833881
ensemblrs386833881
gopubmedrs386833881
geneviewrs386833881
scholarrs386833881
googlers386833881
pharmgkbrs386833881
gwascentralrs386833881
openSNPrs386833881
23andMers386833881
23andMe allrs386833881
SNP Nexus

SNPshotrs386833881
SNPdbers386833881
MSV3drs386833881
GWAS Ctlgrs386833881
Max Magnitude0
ClinVar
Risk rs386833881(A;A)
Alt rs386833881(A;A)
Reference rs386833881(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36338989C>T
CLNSRC ClinVar
CLNACC RCV000049852.1,


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