Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2273073
rs2273073
BMP2
0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.020 0.500 2 2006 2008
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs1005464
rs1005464
BMP2
0.882 0.040 20 6775501 intron variant G/A snv 0.19
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs1049007
rs1049007
BMP2
1.000 0.040 20 6770387 synonymous variant A/C;G snv 0.67
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 < 0.001 1 2016 2016
dbSNP: rs15705
rs15705
BMP2
1.000 20 6779333 3 prime UTR variant A/C;T snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2016 2016
dbSNP: rs2273073
rs2273073
BMP2
0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs2273073
rs2273073
BMP2
0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		0.010 < 0.001 1 2008 2008
dbSNP: rs235764
rs235764
BMP2
0.882 0.040 20 6773599 intron variant G/A snv 0.31
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs235764
rs235764
BMP2
0.882 0.040 20 6773599 intron variant G/A snv 0.31
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs235764
rs235764
BMP2
0.882 0.040 20 6773599 intron variant G/A snv 0.31
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 < 0.001 1 2016 2016
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2006 2006
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 < 0.001 1 2006 2006
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2017 2017
dbSNP: rs235768
rs235768
BMP2
0.807 0.160 20 6778468 missense variant A/G;T snv 0.67
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs3178250
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2016 2016
dbSNP: rs3178250
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs3178250
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2019 2019
dbSNP: rs3178250
rs3178250
BMP2
0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015