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

rs386833911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833911(C;T)
Make rs386833911(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842481
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833911
ebirs386833911
HLIrs386833911
Exacrs386833911
Varsomers386833911
Maprs386833911
PheGenIrs386833911
hapmaprs386833911
1000 genomesrs386833911
hgdprs386833911
ensemblrs386833911
gopubmedrs386833911
geneviewrs386833911
scholarrs386833911
googlers386833911
pharmgkbrs386833911
gwascentralrs386833911
openSNPrs386833911
23andMers386833911
23andMe allrs386833911
SNP Nexus

SNPshotrs386833911
SNPdbers386833911
MSV3drs386833911
GWAS Ctlgrs386833911
Max Magnitude0
ClinVar
Risk rs386833911(A,T;A,T)
Alt rs386833911(A,T;A,T)
Reference rs386833911(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.36333383G>A
CLNSRC ClinVar
CLNACC RCV000049884.1,


[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.