COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 218; N. variants: 266
Disease: Osteoporosis, Postmenopausal ×
Source: INFERRED ×
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: rs1555574303
rs1555574303 		0.790 0.240 17 50196172 missense variant C/G snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66490707
rs66490707 		0.790 0.240 17 50195231 splice donor variant C/G;T snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66555264
rs66555264 		0.790 0.240 17 50192993 splice donor variant C/A;T snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs67879854
rs67879854 		0.790 0.240 17 50190578 missense variant C/A;T snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72645357
rs72645357 		0.776 0.240 17 50196163 missense variant C/T snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72648326
rs72648326 		0.790 0.240 17 50195288 stop gained G/A snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72651642
rs72651642 		0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs72653170
rs72653170 		0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0