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: rs1057523747
rs1057523747 		1.000 0.160 X 67717562 missense variant G/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
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: 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
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: rs1340026226
rs1340026226 		1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs137852563
rs137852563 		1.000 0.160 X 67711673 stop gained G/A snv 5.7E-06
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: rs137852564
rs137852564 		0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852564
rs137852564 		0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.800 0
dbSNP: rs137852564
rs137852564 		0.827 0.240 X 67722976 missense variant G/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: rs137852566
rs137852566 		1.000 0.160 X 67686012 stop gained 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
dbSNP: rs137852567
rs137852567 		0.882 0.200 X 67717595 missense variant A/G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs137852568
rs137852568 		1.000 0.160 X 67723728 stop gained 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
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: rs137852571
rs137852571 		0.882 0.080 X 67717495 missense variant G/A snv 7.7E-05 1.9E-05
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0
dbSNP: rs137852573
rs137852573 		0.807 0.280 X 67686064 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852574
rs137852574 		0.925 0.160 X 67723688 missense variant T/G snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: rs137852576
rs137852576 		0.827 0.240 X 67686067 missense variant G/A snv
CUI: C4016581
Disease: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER 		0.700 0
dbSNP: rs137852576
rs137852576 		0.827 0.240 X 67686067 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue 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: rs137852578
rs137852578 		0.827 0.080 X 67723710 missense variant A/G snv
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0
dbSNP: rs137852580
rs137852580 		0.925 0.080 X 67723711 missense variant C/G;T snv
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0
dbSNP: rs137852580
rs137852580 		0.925 0.080 X 67723711 missense variant C/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs137852581
rs137852581 		0.882 0.080 X 67723701 missense variant C/T snv
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0