AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Reifenstein Syndrome ×
Source: ALL
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: rs143040492
rs143040492 		0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 20 1992 2004
dbSNP: rs886041133
rs886041133 		0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 20 1992 2004
dbSNP: rs137852577
rs137852577 		0.882 0.200 X 67722898 missense variant C/T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs9332971
rs9332971 		0.851 0.200 X 67722944 missense variant G/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137852576
rs137852576 		0.827 0.240 X 67686067 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 21 1992 2004
dbSNP: rs137852564
rs137852564 		0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 20 1992 2004
dbSNP: rs9332969
rs9332969 		0.827 0.240 X 67722899 missense variant G/A;T snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 1 1999 1999
dbSNP: rs137852573
rs137852573 		0.807 0.280 X 67686064 missense variant G/A snv
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.810 1.000 21 1992 2004
dbSNP: rs137852569
rs137852569 		0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0