NUP85, nucleoporin 85, 79902

N. diseases: 12; N. variants: 5
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: rs368572297
rs368572297 		1.000 17 75235641 missense variant C/T snv 3.2E-05 7.0E-05
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.800 1.000 1 2018 2018
dbSNP: rs1005714
rs1005714 		1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1321552081
rs1321552081 		1.000 17 75234762 missense variant G/A;C snv 7.0E-06
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.700 1.000 1 2018 2018
dbSNP: rs9988
rs9988 		17 75234761 synonymous variant C/T snv 0.86 0.85
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1568070817
rs1568070817 		1.000 17 75213120 splice donor variant G/A snv
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.700 0