rs72645347, COL1A1

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.790 0.280 17 50196337 missense variant G/A snv 0.700 1.000 5 2000 2017
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.790 0.280 17 50196337 missense variant G/A snv 0.030 1.000 3 2007 2020
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.790 0.280 17 50196337 missense variant G/A snv 0.700 1.000 2 2000 2007
Autoimmune Lymphoproliferative Syndrome Type 2B
2 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2017 2017
Cortical Congenital Hyperostosis
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
10 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2007 2007
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.790 0.280 17 50196337 missense variant G/A snv 0.010 1.000 1 2007 2007
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
37 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0
Fragile skin
CUI: C0241181
Disease: Fragile skin
5 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0