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rs142008044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142008044(C;T)
Make rs142008044(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848334
GeneNPHS1
is asnp
is mentioned by
dbSNPrs142008044
ebirs142008044
HLIrs142008044
Exacrs142008044
Varsomers142008044
Maprs142008044
PheGenIrs142008044
hapmaprs142008044
1000 genomesrs142008044
hgdprs142008044
ensemblrs142008044
gopubmedrs142008044
geneviewrs142008044
scholarrs142008044
googlers142008044
pharmgkbrs142008044
gwascentralrs142008044
openSNPrs142008044
23andMers142008044
23andMe allrs142008044
SNP Nexus

SNPshotrs142008044
SNPdbers142008044
MSV3drs142008044
GWAS Ctlgrs142008044
Max Magnitude0
ClinVar
Risk rs142008044(A,G,T;A,G,T)
Alt rs142008044(A,G,T;A,G,T)
Reference rs142008044(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.36339236C>A
CLNSRC ClinVar
CLNACC RCV000049845.1,


[PMID 18503012OA-icon.png] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.