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

rs386833920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833920(C;T)
Make rs386833920(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842191
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833920
ebirs386833920
HLIrs386833920
Exacrs386833920
Varsomers386833920
Maprs386833920
PheGenIrs386833920
hapmaprs386833920
1000 genomesrs386833920
hgdprs386833920
ensemblrs386833920
gopubmedrs386833920
geneviewrs386833920
scholarrs386833920
googlers386833920
pharmgkbrs386833920
gwascentralrs386833920
openSNPrs386833920
23andMers386833920
23andMe allrs386833920
SNP Nexus

SNPshotrs386833920
SNPdbers386833920
MSV3drs386833920
GWAS Ctlgrs386833920
Max Magnitude0
ClinVar
Risk rs386833920(T;T)
Alt rs386833920(T;T)
Reference rs386833920(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.36333093G>A
CLNSRC ClinVar
CLNACC RCV000049894.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.