rs111854391, TGFBR1

N. diseases: 18
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.
Abnormal cardiac ventricle morphology
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
1 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Aortic Valve Insufficiency
CUI: C0003504
Disease: Aortic Valve Insufficiency
8 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
35 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Mitral Valve Prolapse Syndrome
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
29 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Tricuspid Valve Prolapse
CUI: C0040962
Disease: Tricuspid Valve Prolapse
4 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
Loeys-Dietz Syndrome, Type 1a
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
10 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.800 1.000 6 2005 2012
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
442 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 2006 2015