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: rs523349
rs523349
SRD5A2
0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.080 0.875 8 2002 2017
dbSNP: rs9282858
rs9282858
SRD5A2
0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.060 0.667 6 2002 2017
dbSNP: rs149709822
rs149709822
KLK3
0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.020 0.500 2 2002 2005
dbSNP: rs1799864
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.020 1.000 2 2013 2019
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.020 1.000 2 2006 2016
dbSNP: rs10035432
rs10035432
C5orf46
1.000 0.040 5 147855193 upstream gene variant G/A snv 0.18
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2015 2015
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2019 2019
dbSNP: rs103294
rs103294 		0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2013 2013
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: rs1045531
rs1045531
PSCA
0.882 0.080 8 142682129 synonymous variant C/A snv 0.45 0.44
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2017 2017
dbSNP: rs10459953
rs10459953
NOS2
0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2010 2010
dbSNP: rs1047100
rs1047100
FGFR2
1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2013 2013
dbSNP: rs1057519912
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2016 2016
dbSNP: rs10983755
rs10983755 		0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1126647
rs1126647
CXCL8
0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2004 2004
dbSNP: rs115336889
rs115336889
ROPN1L
1.000 0.040 5 10454257 intron variant G/A;C snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 < 0.001 1 2009 2009
dbSNP: rs12470143
rs12470143
SRD5A2
0.925 0.080 2 31538488 intron variant C/T snv 0.42
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2017 2017
dbSNP: rs12621278
rs12621278
ITGA6
0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2013 2013
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
0.882 0.080 5 1895715 intron variant C/T snv 0.43
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2013 2013
dbSNP: rs12826786
rs12826786 		0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2017 2017
dbSNP: rs137852569
rs137852569
AR
0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2005 2005
dbSNP: rs16902947
rs16902947 		1.000 0.040 5 36308995 intergenic variant A/G snv 0.22
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2007 2007