AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
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: rs1386577803
rs1386577803 		0.851 0.240 X 67722872 missense variant G/A snv
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs9332969
rs9332969 		0.827 0.240 X 67722899 missense variant G/A;T snv
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs1555969528
rs1555969528 		X 67545375 stop gained C/T snv
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		0.700 0
dbSNP: rs1555969528
rs1555969528 		X 67545375 stop gained C/T snv
CUI: C1859391
Disease: Absent pubic hair
Absent pubic hair 		0.700 0
dbSNP: rs1034866440
rs1034866440 		0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs137852569
rs137852569 		0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs3138869
rs3138869 		0.925 0.080 X 67546514 frameshift variant -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG delins
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6152
rs6152 		0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6152
rs6152 		0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1204038
rs1204038 		0.882 0.160 X 67568383 intron variant G/A snv 0.36
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12396249
rs12396249 		1.000 0.080 X 67557224 intron variant G/A snv 0.20
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1337080
rs1337080 		1.000 0.080 X 67659077 intron variant G/A snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2255702
rs2255702 		1.000 0.080 X 67578269 intron variant C/T snv 0.36
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4827545
rs4827545 		1.000 0.080 X 67608543 intron variant A/G;T snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5918757
rs5918757 		1.000 0.080 X 67586188 intron variant G/A snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5918760
rs5918760 		1.000 0.080 X 67618909 intron variant T/A;C snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5918762
rs5918762 		1.000 0.080 X 67694959 3 prime UTR variant T/C snv 0.64
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5918764
rs5918764 		1.000 0.080 X 67717865 intron variant A/G;T snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs5919393
rs5919393 		1.000 0.080 X 67605515 intron variant C/T snv 0.64
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs6624304
rs6624304 		0.882 0.160 X 67655914 intron variant T/A;C snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs137852592
rs137852592 		0.925 0.160 X 67721937 missense variant T/C snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2002
dbSNP: rs137852567
rs137852567 		0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1800053
rs1800053 		0.851 0.160 X 67711453 missense variant C/A snv 1.1E-03 1.2E-03
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1298691127
rs1298691127 		1.000 0.080 X 67711447 missense variant G/C snv 6.2E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs137852578
rs137852578 		0.827 0.080 X 67723710 missense variant A/G snv
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.020 1.000 2 2003 2005