rs1553630457, TGFBR2

N. diseases: 8
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.
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
26 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Bilateral talipes equinovarus
CUI: C1837835
Disease: Bilateral talipes equinovarus
6 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017