ZNF687, zinc finger protein 687, 57592

N. diseases: 17; N. variants: 2
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: rs148402804
rs148402804 		0.925 0.040 1 151289853 missense variant C/A;G;T snv 2.4E-04; 2.1E-04; 1.2E-04
CUI: C4085250
Disease: PAGET DISEASE OF BONE 6
PAGET DISEASE OF BONE 6 		0.800 0
dbSNP: rs869025582
rs869025582 		1.000 1 151287016 missense variant G/T snv
CUI: C4085250
Disease: PAGET DISEASE OF BONE 6
PAGET DISEASE OF BONE 6 		0.800 0
dbSNP: rs148402804
rs148402804 		0.925 0.040 1 151289853 missense variant C/A;G;T snv 2.4E-04; 2.1E-04; 1.2E-04
CUI: C0017525
Disease: Giant Cell Tumors
Giant Cell Tumors 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs148402804
rs148402804 		0.925 0.040 1 151289853 missense variant C/A;G;T snv 2.4E-04; 2.1E-04; 1.2E-04
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018