Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 DHCR7 Q9UBM7 p.Leu99Pro rs104886041 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Detail
0.19 (T)
0.192 (N)
N