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

rs386833961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833961(G;T)
Make rs386833961(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35849268
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833961
ebirs386833961
HLIrs386833961
Exacrs386833961
Varsomers386833961
Maprs386833961
PheGenIrs386833961
hapmaprs386833961
1000 genomesrs386833961
hgdprs386833961
ensemblrs386833961
gopubmedrs386833961
geneviewrs386833961
scholarrs386833961
googlers386833961
pharmgkbrs386833961
gwascentralrs386833961
openSNPrs386833961
23andMers386833961
23andMe allrs386833961
SNP Nexus

SNPshotrs386833961
SNPdbers386833961
MSV3drs386833961
GWAS Ctlgrs386833961
Max Magnitude0
ClinVar
Risk rs386833961(T;T)
Alt rs386833961(T;T)
Reference rs386833961(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.36340170C>A
CLNSRC ClinVar
CLNACC RCV000049936.1,


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


[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.