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: 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: rs1230878869
rs1230878869 		0.925 0.120 X 67545220 missense variant A/G snv 9.7E-06
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		0.010 1.000 1 2013 2013
dbSNP: rs1230878869
rs1230878869 		0.925 0.120 X 67545220 missense variant A/G snv 9.7E-06
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs139767835
rs139767835 		0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-04
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs139767835
rs139767835 		0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-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 0.010 1.000 1 2016 2016
dbSNP: rs139767835
rs139767835 		0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-04
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs777787518
rs777787518 		0.925 0.080 X 67545298 missense variant G/A snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777787518
rs777787518 		0.925 0.080 X 67545298 missense variant G/A snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs78686797
rs78686797 		1.000 0.080 X 67545316 missense variant T/A snv 1.1E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs3032358
rs3032358 		1.000 0.080 X 67545317 inframe insertion 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delins
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 2001 2001
dbSNP: rs137852575
rs137852575 		1.000 0.160 X 67545324 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs759327087
rs759327087 		1.000 0.160 X 67545324 frameshift variant -/A delins
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs869320731
rs869320731 		1.000 0.160 X 67545326 frameshift variant GC/- del
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1569263557
rs1569263557 		0.925 0.200 X 67545341 stop gained GCAGC/TT delins
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1569263557
rs1569263557 		0.925 0.200 X 67545341 stop gained GCAGC/TT delins
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 0
dbSNP: rs1555969512
rs1555969512 		1.000 0.160 X 67545360 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1199988820
rs1199988820 		1.000 0.160 X 67545363 stop gained C/G;T snv 7.3E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs886041129
rs886041129 		1.000 0.160 X 67545366 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 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: rs1555969528
rs1555969528 		X 67545375 stop gained C/T snv
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		0.700 0
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: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		0.700 0
dbSNP: rs1555969545
rs1555969545 		1.000 0.160 X 67545414 stop gained C/T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs112374098
rs112374098 		0.925 0.200 X 67545417 stop gained C/A;T snv
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 0
dbSNP: rs112374098
rs112374098 		0.925 0.200 X 67545417 stop gained C/A;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0