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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 TGFBR1 P36897 p.Met318Arg rs121918710 Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]
1ias
A
Detail
0.40 (T)
0.999 (D)
D ( Predicted by rules : 1 )