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rs386833885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833885(G;T)
Make rs386833885(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35846052
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833885
ebirs386833885
HLIrs386833885
Exacrs386833885
Varsomers386833885
Maprs386833885
PheGenIrs386833885
hapmaprs386833885
1000 genomesrs386833885
hgdprs386833885
ensemblrs386833885
gopubmedrs386833885
geneviewrs386833885
scholarrs386833885
googlers386833885
pharmgkbrs386833885
gwascentralrs386833885
openSNPrs386833885
23andMers386833885
23andMe allrs386833885
SNP Nexus

SNPshotrs386833885
SNPdbers386833885
MSV3drs386833885
GWAS Ctlgrs386833885
Max Magnitude0
ClinVar
Risk rs386833885(T;T)
Alt rs386833885(T;T)
Reference rs386833885(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.36336954C>A
CLNSRC ClinVar
CLNACC RCV000049856.1,


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