Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 DHCR7 Q9UBM7 p.Met1Val rs104886033 SMITH-LEMLI-OPITZ SYNDROME, MILD [MIM:602858#0020]
Detail
0.59 (T)
0.95 (D)
N