DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs186628781
rs186628781
1.000 0.080 X 32472271 missense variant T/C;G snv 1.1E-04
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200928985
rs200928985
1.000 0.080 X 31223056 missense variant C/A;T snv 4.4E-05; 1.1E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs201718067
rs201718067
1.000 0.080 X 31223083 missense variant C/A snv 7.6E-05 6.6E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs748838045
rs748838045
1.000 0.080 X 31178676 missense variant T/C snv 5.5E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs761715369
rs761715369
1.000 0.080 X 32468508 missense variant C/T snv 2.4E-05 9.5E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs780508132
rs780508132
0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2006 2006