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rs386833897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833897(C;C)
Make rs386833897(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35851540
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833897
ebirs386833897
HLIrs386833897
Exacrs386833897
Varsomers386833897
Maprs386833897
PheGenIrs386833897
hapmaprs386833897
1000 genomesrs386833897
hgdprs386833897
ensemblrs386833897
gopubmedrs386833897
geneviewrs386833897
scholarrs386833897
googlers386833897
pharmgkbrs386833897
gwascentralrs386833897
openSNPrs386833897
23andMers386833897
23andMe allrs386833897
SNP Nexus

SNPshotrs386833897
SNPdbers386833897
MSV3drs386833897
GWAS Ctlgrs386833897
Max Magnitude0
ClinVar
Risk rs386833897(C;C)
Alt rs386833897(C;C)
Reference rs386833897(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342442C>G
CLNSRC ClinVar
CLNACC RCV000049868.1,


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