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rs138909849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138909849(A;A)
Make rs138909849(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position56833407
GeneNUP93
is asnp
is mentioned by
dbSNPrs138909849
dbSNP (classic)rs138909849
ClinGenrs138909849
ebirs138909849
HLIrs138909849
Exacrs138909849
Gnomadrs138909849
Varsomers138909849
LitVarrs138909849
Maprs138909849
PheGenIrs138909849
Biobankrs138909849
1000 genomesrs138909849
hgdprs138909849
ensemblrs138909849
geneviewrs138909849
scholarrs138909849
googlers138909849
pharmgkbrs138909849
gwascentralrs138909849
openSNPrs138909849
23andMers138909849
SNPshotrs138909849
SNPdbers138909849
MSV3drs138909849
GWAS Ctlgrs138909849
Max Magnitude0
ClinVar
Risk rs138909849(A;A)
Alt rs138909849(A;A)
Reference Rs138909849(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUP93
CLNDBN Nephrotic syndrome, type 12
Reversed 0
HGVS NC_000016.9:g.56867319G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210572.1,