NUP85, nucleoporin 85, 79902

N. diseases: 12; N. variants: 5
Disease: Systemic Scleroderma ×
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: 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