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: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
dbSNP: rs78247304
rs78247304
2 0.925 0.040 2 162446391 missense variant C/T snv 7.6E-05 6.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs17026688
rs17026688
2 1.000 0.040 3 30845325 intron variant C/T snv 9.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs7619173
rs7619173
1 1.000 0.040 3 181279171 intron variant C/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs11956731
rs11956731
1 1.000 0.040 5 161700816 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs13188991
rs13188991
1 1.000 0.040 5 161685998 synonymous variant G/A;C snv 0.19 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2197414
rs2197414
1 1.000 0.040 5 161681878 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3815762
rs3815762
1 1.000 0.040 5 170788816 intron variant T/A snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs4868029
rs4868029
1 1.000 0.040 5 170790498 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs4921195
rs4921195
1 1.000 0.040 5 161684582 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs5326
rs5326
6 0.851 0.160 5 175443193 5 prime UTR variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 < 0.001 2 2006 2013
dbSNP: rs1046943
rs1046943
3 1.000 0.040 6 109462738 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2619522
rs2619522
6 0.827 0.080 6 15653418 intron variant A/C snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs781140785
rs781140785
2 0.925 0.040 7 150952801 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs12547858
rs12547858
1 1.000 0.040 8 32629535 intron variant C/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs3757933
rs3757933
1 1.000 0.040 8 32747325 intron variant G/A snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs6468121
rs6468121
1 1.000 0.040 8 32643290 intron variant G/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs722642
rs722642
1 1.000 0.040 9 78681003 intergenic variant T/C snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs11001178
rs11001178
1 1.000 0.040 10 74842047 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2005 2005