AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Bulbo-Spinal Atrophy, X-Linked ×
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: rs886041133
rs886041133 		0.882 0.200 X 67723746 missense variant G/A;C snv 5.5E-06
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 1994 2014
dbSNP: rs143040492
rs143040492 		0.882 0.200 X 67723690 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1996 1996