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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 TGFBR2 P37173 p.Met36Val rs17025864 variant of unknown significance
Detail
0.51 (T)
0 (N)
N
2 TGFBR2 P37173 p.Cys101Tyr rs144137785 variant of unknown significance
1plo
A
Detail
1.00 (T)
1 (D)
D ( Predicted by rules : 1 )
3 TGFBR2 P37173 p.Thr132Ala rs146497045 variant of unknown significance
1plo
A
Detail
0.68 (T)
0.002 (N)
N
4 TGFBR2 P37173 p.Val191Ile rs56105708 variant of unknown significance
Detail
0.23 (T)
0 (N)
N
5 TGFBR2 P37173 p.Arg193Trp rs61762550 variant of unknown significance
Detail
0.19 (T)
0.992 (D)
N
6 TGFBR2 P37173 p.Thr206Met rs150022335 variant of unknown significance
Detail
0.23 (T)
0.67 (D)
N
7 TGFBR2 P37173 p.Ala217Pro rs149141477 variant of unknown significance
Detail
0.31 (T)
0.036 (N)
N
8 TGFBR2 P37173 p.Arg224His rs112465572 variant of unknown significance
Detail
0.17 (T)
0.003 (N)
N
9 TGFBR2 P37173 p.Thr230Met rs150116445 variant of unknown significance
Detail
0.21 (T)
0.866 (D)
N
10 TGFBR2 P37173 p.Val258Leu rs184297150 variant of unknown significance
Detail
(-)
(-)
N
11 TGFBR2 P37173 p.Ser268Leu rs139078984 variant of unknown significance
Detail
0.06 (T)
0.847 (D)
N
12 TGFBR2 P37173 p.Leu308Pro rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]
Detail
0.03 (D)
0.999 (D)
N
13 TGFBR2 P37173 p.Arg313Trp rs55751315 variant of unknown significance
Detail
0.23 (T)
1 (D)
N
14 TGFBR2 P37173 p.Thr315Met rs34833812 Hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:190182]
Detail
0.22 (T)
0.055 (N)
N
15 TGFBR2 P37173 p.Glu316Val rs3209742 variant of unknown significance
Detail
0.24 (T)
0.095 (N)
N
16 TGFBR2 P37173 p.Ala329Thr rs148665451 variant of unknown significance
Detail
0.47 (T)
0.003 (N)
N
17 TGFBR2 P37173 p.Tyr336Asn rs104893812 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]
Detail
0.02 (D)
0.994 (D)
N
18 TGFBR2 P37173 p.Arg348Cys rs144701411 variant of unknown significance
Detail
0.32 (T)
0.001 (N)
N
19 TGFBR2 P37173 p.Ala355Pro rs104893813 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]
Detail
0.02 (D)
0.959 (D)
N
20 TGFBR2 P37173 p.Gly357Trp rs104893814 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]
Detail
0.00 (D)
1 (D)
N
21 TGFBR2 P37173 p.His360Asp rs189119533 variant of unknown significance
Detail
(-)
(-)
N
22 TGFBR2 P37173 p.Met373Ile rs35719192 variant of unknown significance
Detail
0.61 (T)
0.001 (N)
N
23 TGFBR2 P37173 p.Ile385Val rs137908708 variant of unknown significance
Detail
0.50 (T)
0.09 (N)
N
24 TGFBR2 P37173 p.Ile385Ser rs111319732 variant of unknown significance
Detail
0.00 (D)
0.997 (D)
N
25 TGFBR2 P37173 p.Val387Met rs35766612 variant of unknown significance
Detail
0.07 (T)
0.984 (D)
N
26 TGFBR2 P37173 p.Arg403His rs143095746 variant of unknown significance
Detail
0.12 (T)
0.998 (D)
N
27 TGFBR2 P37173 p.Met425Val rs104893817 LOEYS-DIETZ SYNDROME, TYPE 2B [MIM:190182#0017]
Detail
0.06 (T)
0.999 (D)
N
28 TGFBR2 P37173 p.Pro427Leu rs104893818 LOEYS-DIETZ SYNDROME, TYPE 2B [MIM:190182#0018]
Detail
0.00 (D)
1 (D)
N
29 TGFBR2 P37173 p.Val439Ala rs1050833 variant of unknown significance
Detail
0.58 (T)
0.072 (N)
N
30 TGFBR2 P37173 p.Ser449Phe rs104893807 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]
Detail
0.00 (D)
1 (D)
N
31 TGFBR2 P37173 p.Arg460His rs104893816 Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]
Detail
0.01 (D)
1 (D)
N
32 TGFBR2 P37173 p.Arg460Cys rs104893811 Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]
Detail
0.04 (D)
1 (D)
N
33 TGFBR2 P37173 p.Thr516Met rs149847376 variant of unknown significance
Detail
0.09 (T)
1 (D)
N
34 TGFBR2 P37173 p.Glu526Gln rs121918714 Esophageal cancer (ESCR) [MIM:133239]
Detail
0.17 (T)
1 (D)
N
35 TGFBR2 P37173 p.Arg528His rs104893815 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]
Detail
0.00 (D)
1 (D)
N
36 TGFBR2 P37173 p.Arg528Cys rs104893810 Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]
Detail
0.00 (D)
1 (D)
N
37 TGFBR2 P37173 p.Arg537Cys rs104893809 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]
Detail
0.03 (D)
1 (D)
N
38 TGFBR2 P37173 p.Ser553Thr rs112215250 variant of unknown significance
Detail
0.57 (T)
0.999 (D)
N