Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908650
rs121908650
1.000 0.160 1 22120459 missense variant T/C snv
Mullerian Aplasia and Hyperandrogenism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2004 2008
dbSNP: rs121908653
rs121908653
0.925 0.200 1 22142888 missense variant A/G snv
Mullerian Aplasia and Hyperandrogenism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2004 2008
dbSNP: rs121908652
rs121908652
1.000 0.160 1 22129682 missense variant G/A snv 4.0E-06 1.4E-05
Mullerian Aplasia and Hyperandrogenism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0