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rs145473779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145473779(G;T)
Make rs145473779(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position56834768
GeneNUP93
is asnp
is mentioned by
dbSNPrs145473779
dbSNP (classic)rs145473779
ClinGenrs145473779
ebirs145473779
HLIrs145473779
Exacrs145473779
Gnomadrs145473779
Varsomers145473779
LitVarrs145473779
Maprs145473779
PheGenIrs145473779
Biobankrs145473779
1000 genomesrs145473779
hgdprs145473779
ensemblrs145473779
geneviewrs145473779
scholarrs145473779
googlers145473779
pharmgkbrs145473779
gwascentralrs145473779
openSNPrs145473779
23andMers145473779
SNPshotrs145473779
SNPdbers145473779
MSV3drs145473779
GWAS Ctlgrs145473779
Max Magnitude0
ClinVar
Risk rs145473779(T;T)
Alt rs145473779(T;T)
Reference Rs145473779(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUP93
CLNDBN Nephrotic syndrome, type 12
Reversed 0
HGVS NC_000016.9:g.56868680G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210563.1,