NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3
Disease: NEPHROTIC SYNDROME, TYPE 18 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs376476266
rs376476266 		1.000 1 229450541 missense variant A/G snv 5.8E-05 6.3E-05
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.800 1.000 1 2018 2018
dbSNP: rs1558091788
rs1558091788 		1.000 1 229458219 missense variant A/C snv
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.700 1.000 1 2018 2018
dbSNP: rs1558108130
rs1558108130 		1.000 1 229498264 missense variant G/C snv
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.700 1.000 1 2018 2018