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rs869320695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320695(-;-)
Make rs869320695(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position56832369
GeneNUP93
is asnp
is mentioned by
dbSNPrs869320695
dbSNP (classic)rs869320695
ClinGenrs869320695
ebirs869320695
HLIrs869320695
Exacrs869320695
Gnomadrs869320695
Varsomers869320695
LitVarrs869320695
Maprs869320695
PheGenIrs869320695
Biobankrs869320695
1000 genomesrs869320695
hgdprs869320695
ensemblrs869320695
geneviewrs869320695
scholarrs869320695
googlers869320695
pharmgkbrs869320695
gwascentralrs869320695
openSNPrs869320695
23andMers869320695
SNPshotrs869320695
SNPdbers869320695
MSV3drs869320695
GWAS Ctlgrs869320695
Max Magnitude0
ClinVar
Risk rs869320695(-;-)
Alt rs869320695(-;-)
Reference Rs869320695(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUP93
CLNDBN Nephrotic syndrome, type 12
Reversed 0
HGVS NC_000016.9:g.56866281delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000210703.1,