BOP1, BOP1 ribosomal biogenesis factor, 23246

N. diseases: 4; N. variants: 1
Source: CURATED ×
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: rs7838717
rs7838717 		1.000 0.120 8 144280310 intron variant C/T snv 0.30
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 2 2019 2019
dbSNP: rs7838717
rs7838717 		1.000 0.120 8 144280310 intron variant C/T snv 0.30
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs7838717
rs7838717 		1.000 0.120 8 144280310 intron variant C/T snv 0.30
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017