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rs200253809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200253809(A;A)
Make rs200253809(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35844249
GeneNPHS1
is asnp
is mentioned by
dbSNPrs200253809
ebirs200253809
HLIrs200253809
Exacrs200253809
Varsomers200253809
Maprs200253809
PheGenIrs200253809
hapmaprs200253809
1000 genomesrs200253809
hgdprs200253809
ensemblrs200253809
gopubmedrs200253809
geneviewrs200253809
scholarrs200253809
googlers200253809
pharmgkbrs200253809
gwascentralrs200253809
openSNPrs200253809
23andMers200253809
23andMe allrs200253809
SNP Nexus

SNPshotrs200253809
SNPdbers200253809
MSV3drs200253809
GWAS Ctlgrs200253809
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs200253809(A,C,T;A,C,T)
Alt rs200253809(A,C,T;A,C,T)
Reference rs200253809(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36335151G>C
CLNSRC ClinVar
CLNACC RCV000049874.1,


[PMID 18614772OA-icon.png] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.