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: rs72653170
rs72653170
COL1A1
0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.850 1.000 5 2005 2014
dbSNP: rs2075555
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 0.500 1 2007 2011
dbSNP: rs2075555
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 0.500 1 2007 2011
dbSNP: rs67445413
rs67445413
COL1A1
0.925 0.120 17 50189876 missense variant C/A;T snv
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.710 1.000 1 2008 2008
dbSNP: rs67507747
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.710 1.000 1 2001 2001
dbSNP: rs72645362
rs72645362
COL1A1
1.000 0.120 17 50195934 missense variant C/A;T snv 2.4E-05
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.710 1.000 1 1988 2014
dbSNP: rs72654802
rs72654802
COL1A1
0.882 0.120 17 50188122 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.710 1.000 1 1992 2017
dbSNP: rs2075555
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.040 0.500 4 2007 2011
dbSNP: rs2269336
rs2269336
COL1A1
1.000 0.040 17 50202995 intron variant G/A;C snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.030 0.667 3 2007 2011
dbSNP: rs72645347
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.030 1.000 3 2007 2020
dbSNP: rs72654799
rs72654799
COL1A1
0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 1.000 2 2007 2017
dbSNP: rs72654802
rs72654802
COL1A1
0.882 0.120 17 50188122 missense variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.020 1.000 2 2011 2012
dbSNP: rs1061970
rs1061970
COL1A1
0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2014 2014
dbSNP: rs1061970
rs1061970
COL1A1
0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs1061970
rs1061970
COL1A1
0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs1107946
rs1107946
COL1A1
1.000 0.040 17 50203629 intron variant A/C snv 0.80
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2007 2007
dbSNP: rs11327935
rs11327935
COL1A1
1.000 0.040 17 50203295 intron variant AA/-;A;AAA delins 0.18
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs1260429820
rs1260429820
COL1A1
1.000 0.120 17 50187885 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 1.000 1 2006 2006
dbSNP: rs1270965996
rs1270965996
COL1A1
1.000 0.080 17 50195463 missense variant C/T snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 1.000 1 2012 2012
dbSNP: rs1473998316
rs1473998316
COL1A1
1.000 0.080 17 50195926 synonymous variant A/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2007 2007
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C1510475
Disease: Diverticulosis
Diverticulosis 		0.010 1.000 1 2018 2018
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0231528
Disease: Myalgia
Myalgia 		0.010 1.000 1 2018 2018
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs1800012
rs1800012
COL1A1
0.763 0.320 17 50200388 intron variant C/A snv 0.14
CUI: C0042025
Disease: Urinary Stress Incontinence
Urinary Stress Incontinence 		0.010 1.000 1 2015 2015