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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 CYP11B1 P15538 p.Asn133Asp rs104894067 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE [MIM:610613#0007]
Detail
0.28 (T)
0.997 (D)
N
2 CYP11B1 P15538 p.Asn133His rs104894067 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
Detail
0.15 (T)
1 (D)
N