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: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2004 2004
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs2675703
rs2675703
1 1.000 0.040 10 86654812 missense variant C/T snv 0.10 0.10 0.020 1.000 2 2009 2018
dbSNP: rs140701
rs140701
7 0.790 0.200 17 30211514 intron variant C/T snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs731779
rs731779
1 1.000 0.040 13 46877903 intron variant A/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs10838524
rs10838524
5 0.851 0.120 11 45848626 intron variant A/G snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs11541353
rs11541353
4 0.851 0.120 2 100977729 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2028122
rs2028122
4 0.851 0.120 15 60549076 intron variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2314339
rs2314339
4 0.851 0.120 17 40096959 intron variant C/T snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs7019241
rs7019241
1 1.000 0.040 9 86078545 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1079610
rs1079610
1 1.000 0.040 10 86662359 missense variant C/T snv 0.70 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2018 2018