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rs386833930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833930(A;A)
Make rs386833930(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35839495
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833930
ebirs386833930
HLIrs386833930
Exacrs386833930
Varsomers386833930
Maprs386833930
PheGenIrs386833930
hapmaprs386833930
1000 genomesrs386833930
hgdprs386833930
ensemblrs386833930
gopubmedrs386833930
geneviewrs386833930
scholarrs386833930
googlers386833930
pharmgkbrs386833930
gwascentralrs386833930
openSNPrs386833930
23andMers386833930
23andMe allrs386833930
SNP Nexus

SNPshotrs386833930
SNPdbers386833930
MSV3drs386833930
GWAS Ctlgrs386833930
Max Magnitude0
ClinVar
Risk rs386833930(A;A)
Alt rs386833930(A;A)
Reference rs386833930(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.36330397C>T
CLNSRC ClinVar
CLNACC RCV000049904.1,


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