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: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2509843
rs2509843
2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3915512
rs3915512
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs4916723
rs4916723
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs5177
rs5177
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs63750231
rs63750231
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7065696
rs7065696
2 X 53947621 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs802524
rs802524
2 7 146254550 intron variant T/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2006 2012
dbSNP: rs373584456
rs373584456
1 1 156136335 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs374726751
rs374726751
1 1 156136245 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs374926367
rs374926367
1 1 156139089 missense variant A/G snv 1.2E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs1799921
rs1799921
2 5 63961638 missense variant T/C snv 9.4E-03 9.3E-03 0.010 1.000 1 2008 2008