Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 ABCA3 Q99758 p.Gln1591Pro rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
Detail
0.05 (T)
0.991 (D)
N