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rs386833866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833866(C;T)
Make rs386833866(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848705
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833866
ebirs386833866
HLIrs386833866
Exacrs386833866
Varsomers386833866
Maprs386833866
PheGenIrs386833866
hapmaprs386833866
1000 genomesrs386833866
hgdprs386833866
ensemblrs386833866
gopubmedrs386833866
geneviewrs386833866
scholarrs386833866
googlers386833866
pharmgkbrs386833866
gwascentralrs386833866
openSNPrs386833866
23andMers386833866
23andMe allrs386833866
SNP Nexus

SNPshotrs386833866
SNPdbers386833866
MSV3drs386833866
GWAS Ctlgrs386833866
Max Magnitude0
ClinVar
Risk rs386833866(T;T)
Alt rs386833866(T;T)
Reference rs386833866(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.36339607G>A
CLNSRC ClinVar
CLNACC RCV000049836.1,


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