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rs386833954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833954(G;T)
Make rs386833954(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851779
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833954
ebirs386833954
HLIrs386833954
Exacrs386833954
Varsomers386833954
Maprs386833954
PheGenIrs386833954
hapmaprs386833954
1000 genomesrs386833954
hgdprs386833954
ensemblrs386833954
gopubmedrs386833954
geneviewrs386833954
scholarrs386833954
googlers386833954
pharmgkbrs386833954
gwascentralrs386833954
openSNPrs386833954
23andMers386833954
23andMe allrs386833954
SNP Nexus

SNPshotrs386833954
SNPdbers386833954
MSV3drs386833954
GWAS Ctlgrs386833954
Max Magnitude0
ClinVar
Risk rs386833954(T;T)
Alt rs386833954(T;T)
Reference rs386833954(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342681C>A
CLNSRC ClinVar
CLNACC RCV000049929.1,


[PMID 20172850OA-icon.png] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).