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: rs1064793480
rs1064793480 		1.000 0.160 X 67721934 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 0.700 0
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
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: rs137852590
rs137852590 		1.000 0.160 X 67545667 stop gained T/G 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: rs141425171
rs141425171 		1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 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 0
dbSNP: rs142280455
rs142280455 		1.000 0.160 X 67686033 missense variant A/G snv 3.1E-04 3.8E-04
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: rs1555982894
rs1555982894 		0.925 0.160 X 67643409 splice donor variant T/C 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: rs201934623
rs201934623 		0.925 0.160 X 67546320 missense variant C/T snv 4.5E-03 2.0E-03
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: rs886041352
rs886041352 		0.925 0.160 X 67717618 missense variant A/C 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: 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: 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: rs137852591
rs137852591 		0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03
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 2010
dbSNP: rs104894742
rs104894742 		1.000 0.160 X 67545150 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 0.800 1.000 20 1992 2004
dbSNP: rs1085307685
rs1085307685 		0.925 0.160 X 67717552 missense variant A/G 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 1.000 20 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: rs137852567
rs137852567 		0.882 0.200 X 67717595 missense variant A/G 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: rs137852572
rs137852572 		0.925 0.160 X 67721838 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 0.700 1.000 20 1992 2004
dbSNP: rs137852574
rs137852574 		0.925 0.160 X 67723688 missense variant T/G 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 1.000 20 1992 2004
dbSNP: rs137852587
rs137852587 		0.925 0.160 X 67643387 missense variant T/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 0.700 1.000 20 1992 2004
dbSNP: rs137852589
rs137852589 		0.925 0.160 X 67721857 missense variant G/A;T 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: rs137852592
rs137852592 		0.925 0.160 X 67721937 missense variant T/C 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: rs137852595
rs137852595 		0.925 0.160 X 67711653 missense variant C/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 1.000 20 1992 2004
dbSNP: rs137852600
rs137852600 		0.925 0.160 X 67717535 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 0.810 1.000 20 1992 2004
dbSNP: rs139524801
rs139524801 		0.925 0.160 X 67643283 missense variant G/A;T snv 1.8E-04
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