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: 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: rs139767835
rs139767835
AR
0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-04
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs139767835
rs139767835
AR
0.882 0.160 X 67545280 missense variant C/G snv 3.3E-05 2.5E-04
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs139767835
rs139767835
AR
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 		0.010 1.000 1 2016 2016
dbSNP: rs777787518
rs777787518
AR
0.925 0.080 X 67545298 missense variant G/A snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2012 2012
dbSNP: rs777787518
rs777787518
AR
0.925 0.080 X 67545298 missense variant G/A snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.020 1.000 2 2005 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2005 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		0.020 1.000 2 2005 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2005 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2008 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs976306779
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs1428754151
rs1428754151
AR
X 67545583 missense variant C/G;T snv
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.010 1.000 1 2019 2019
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		0.020 1.000 2 2010 2015
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2015 2015
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.010 1.000 1 2015 2015
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 1.000 1 2007 2007
dbSNP: rs6152
rs6152
AR
0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2015 2015