Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1034866440
rs1034866440
AR
0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.600 5 2001 2011
dbSNP: rs1034866440
rs1034866440
AR
0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 0.750 4 2002 2011
dbSNP: rs1034866440
rs1034866440
AR
0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 1.000 1 2012 2012
dbSNP: rs1034866440
rs1034866440
AR
0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2005 2005
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.030 1.000 3 2013 2016
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2013 2015
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2013 2015
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2013 2013
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2013 2013
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs1057519864
rs1057519864
AR
0.851 0.080 X 67723707 missense variant T/C snv
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1176604873
rs1176604873
AR
1.000 0.160 X 67546549 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		0.010 1.000 1 1997 1997
dbSNP: rs12014709
rs12014709
AR
1.000 0.120 X 67718624 intron variant T/G snv 0.15
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.010 1.000 1 2011 2011
dbSNP: rs1204038
rs1204038
AR
0.882 0.160 X 67568383 intron variant G/A snv 0.36
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1204038
rs1204038
AR
0.882 0.160 X 67568383 intron variant G/A snv 0.36
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs1218564193
rs1218564193
AR
1.000 0.320 X 67686093 missense variant C/T snv 5.5E-06
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 		0.010 1.000 1 2011 2011
dbSNP: rs1230878869
rs1230878869
AR
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
AR
0.925 0.120 X 67545220 missense variant A/G snv 9.7E-06
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		0.010 1.000 1 2013 2013
dbSNP: rs1262199907
rs1262199907
AR
1.000 0.160 X 67685960 missense variant C/T snv 5.5E-06 9.5E-06
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2008 2008
dbSNP: rs1262199907
rs1262199907
AR
1.000 0.160 X 67685960 missense variant C/T snv 5.5E-06 9.5E-06
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs1298691127
rs1298691127
AR
1.000 0.080 X 67711447 missense variant G/C snv 6.2E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2014 2014
dbSNP: rs1332619445
rs1332619445
AR
1.000 0.160 X 67717542 missense variant G/C snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.010 1.000 1 2007 2007
dbSNP: rs1340026226
rs1340026226
AR
1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1340026226
rs1340026226
AR
1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2009 2009