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rs386833905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833905(C;G)
Make rs386833905(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844144
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833905
ebirs386833905
HLIrs386833905
Exacrs386833905
Varsomers386833905
Maprs386833905
PheGenIrs386833905
hapmaprs386833905
1000 genomesrs386833905
hgdprs386833905
ensemblrs386833905
gopubmedrs386833905
geneviewrs386833905
scholarrs386833905
googlers386833905
pharmgkbrs386833905
gwascentralrs386833905
openSNPrs386833905
23andMers386833905
23andMe allrs386833905
SNP Nexus

SNPshotrs386833905
SNPdbers386833905
MSV3drs386833905
GWAS Ctlgrs386833905
Max Magnitude0
ClinVar
Risk rs386833905(G;G)
Alt rs386833905(G;G)
Reference rs386833905(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.36335046G>C
CLNSRC ClinVar
CLNACC RCV000049878.1,


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