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rs386833921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833921(-;-)
Make rs386833921(-;CC)
Make rs386833921(CC;CC)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842179
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833921
ebirs386833921
HLIrs386833921
Exacrs386833921
Varsomers386833921
Maprs386833921
PheGenIrs386833921
hapmaprs386833921
1000 genomesrs386833921
hgdprs386833921
ensemblrs386833921
gopubmedrs386833921
geneviewrs386833921
scholarrs386833921
googlers386833921
pharmgkbrs386833921
gwascentralrs386833921
openSNPrs386833921
23andMers386833921
23andMe allrs386833921
SNP Nexus

SNPshotrs386833921
SNPdbers386833921
MSV3drs386833921
GWAS Ctlgrs386833921
Max Magnitude0
ClinVar
Risk rs386833921(CC;CC)
Alt rs386833921(CC;CC)
Reference rs386833921(;)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333082_36333083dupGG
CLNSRC ClinVar
CLNACC RCV000049895.1,


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