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rs386833912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833912(A;A)
Make rs386833912(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842468
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833912
dbSNP (old)rs386833912
ClinGenrs386833912
ebirs386833912
HLIrs386833912
Exacrs386833912
Gnomadrs386833912
Varsomers386833912
Maprs386833912
PheGenIrs386833912
Biobankrs386833912
1000 genomesrs386833912
hgdprs386833912
ensemblrs386833912
gopubmedrs386833912
geneviewrs386833912
scholarrs386833912
googlers386833912
pharmgkbrs386833912
gwascentralrs386833912
openSNPrs386833912
23andMers386833912
23andMe allrs386833912
SNP Nexus

SNPshotrs386833912
SNPdbers386833912
MSV3drs386833912
GWAS Ctlgrs386833912
Max Magnitude0
ClinVar
Risk rs386833912(A;A)
Alt rs386833912(A;A)
Reference Rs386833912(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.36333370G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000049886.2,


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