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rs114203578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114203578(C;T)
Make rs114203578(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842480
GeneNPHS1
is asnp
is mentioned by
dbSNPrs114203578
ClinGenrs114203578
ebirs114203578
HLIrs114203578
Exacrs114203578
Varsomers114203578
Maprs114203578
PheGenIrs114203578
hapmaprs114203578
1000 genomesrs114203578
hgdprs114203578
ensemblrs114203578
gopubmedrs114203578
geneviewrs114203578
scholarrs114203578
googlers114203578
pharmgkbrs114203578
gwascentralrs114203578
openSNPrs114203578
23andMers114203578
23andMe allrs114203578
SNP Nexus

SNPshotrs114203578
SNPdbers114203578
MSV3drs114203578
GWAS Ctlgrs114203578
Max Magnitude0
ClinVar
Risk rs114203578(G;G) rs114203578(T;T)
Alt rs114203578(G;G) rs114203578(T;T)
Reference Rs114203578(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.36333382C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000049885.1,


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