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rs200905486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200905486(C;T)
Make rs200905486(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848707
GeneNPHS1
is asnp
is mentioned by
dbSNPrs200905486
ebirs200905486
HLIrs200905486
Exacrs200905486
Varsomers200905486
Maprs200905486
PheGenIrs200905486
hapmaprs200905486
1000 genomesrs200905486
hgdprs200905486
ensemblrs200905486
gopubmedrs200905486
geneviewrs200905486
scholarrs200905486
googlers200905486
pharmgkbrs200905486
gwascentralrs200905486
openSNPrs200905486
23andMers200905486
23andMe allrs200905486
SNP Nexus

SNPshotrs200905486
SNPdbers200905486
MSV3drs200905486
GWAS Ctlgrs200905486
Max Magnitude0
ClinVar
Risk rs200905486(A,T;A,T)
Alt rs200905486(A,T;A,T)
Reference rs200905486(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36339609C>T
CLNSRC ClinVar
CLNACC RCV000049835.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.