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rs386833868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833868(C;G)
Make rs386833868(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848681
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833868
ebirs386833868
HLIrs386833868
Exacrs386833868
Varsomers386833868
Maprs386833868
PheGenIrs386833868
hapmaprs386833868
1000 genomesrs386833868
hgdprs386833868
ensemblrs386833868
gopubmedrs386833868
geneviewrs386833868
scholarrs386833868
googlers386833868
pharmgkbrs386833868
gwascentralrs386833868
openSNPrs386833868
23andMers386833868
23andMe allrs386833868
SNP Nexus

SNPshotrs386833868
SNPdbers386833868
MSV3drs386833868
GWAS Ctlgrs386833868
Max Magnitude0
ClinVar
Risk rs386833868(G;G)
Alt rs386833868(G;G)
Reference rs386833868(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.36339583G>C
CLNSRC ClinVar
CLNACC RCV000049838.1,


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