Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.333 3 1999 2003
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.010 1.000 1 2012 2012
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs12392447
rs12392447
1 1.000 0.080 X 154496001 non coding transcript exon variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs4610908
rs4610908
1 1.000 0.080 X 35166418 intergenic variant G/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs5916144
rs5916144
1 1.000 0.080 X 5561570 intergenic variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs5961794
rs5961794
1 1.000 0.080 X 5656287 intron variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.070 1.000 7 2004 2015
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs3091367
rs3091367
1 1.000 0.080 22 37831814 3 prime UTR variant C/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs75012854
rs75012854
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs774847933
rs774847933
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs10483038
rs10483038
3 1.000 0.080 21 37652469 intron variant T/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs111372083
rs111372083
3 1.000 0.080 21 37638374 intron variant C/A;T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs111576572
rs111576572
3 1.000 0.080 21 37617262 3 prime UTR variant A/G snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs12482570
rs12482570
3 1.000 0.080 21 37705475 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs1399590
rs1399590
3 1.000 0.080 21 37681768 intron variant G/A snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs1399591
rs1399591
3 1.000 0.080 21 37681654 intron variant C/T snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1399592
rs1399592
3 1.000 0.080 21 37681559 intron variant T/A;G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs1475839
rs1475839
3 1.000 0.080 21 37649639 intron variant C/T snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs1515050
rs1515050
3 1.000 0.080 21 37630840 intron variant T/C snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs1515056
rs1515056
3 1.000 0.080 21 37710283 intron variant C/G;T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs1709817
rs1709817
3 1.000 0.080 21 37664047 intron variant T/A;C snv 0.700 1.000 1 2012 2012