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rs730882216

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882216(A;A)
Make rs730882216(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position68690746
GeneNUP107
is asnp
is mentioned by
dbSNPrs730882216
ebirs730882216
HLIrs730882216
Exacrs730882216
Varsomers730882216
Maprs730882216
PheGenIrs730882216
hapmaprs730882216
1000 genomesrs730882216
hgdprs730882216
ensemblrs730882216
gopubmedrs730882216
geneviewrs730882216
scholarrs730882216
googlers730882216
pharmgkbrs730882216
gwascentralrs730882216
openSNPrs730882216
23andMers730882216
23andMe allrs730882216
SNP Nexus

SNPshotrs730882216
SNPdbers730882216
MSV3drs730882216
GWAS Ctlgrs730882216
Max Magnitude0
ClinVar
Risk rs730882216(A;A)
Alt rs730882216(A;A)
Reference rs730882216(G;G)
Significance Probable-Pathogenic
Disease Early onset focal segmental glomerulosclerosis Global developmental delay Light complexion
Variation info
Gene NUP107
CLNDBN Early onset focal segmental glomerulosclerosis Global developmental delay Light complexion
Reversed 0
HGVS NC_000012.11:g.69084526G>A
CLNSRC
CLNACC RCV000162125.1,