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: rs104893714
rs104893714
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs104893907
rs104893907
3 1.000 5 173232776 stop gained A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894021
rs104894021
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs1057128
rs1057128
1 11 2776007 synonymous variant G/A snv 0.21 0.16 0.010 1.000 1 2008 2008
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs120074195
rs120074195
3 0.925 0.120 11 2572984 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1204372364
rs1204372364
2 1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs121912507
rs121912507
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918602
rs121918602
3 0.925 0.120 1 237454396 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918606
rs121918606
3 0.925 0.080 1 237819181 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1249958
rs1249958
3 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1254113735
rs1254113735
1 12 32822599 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1254179611
rs1254179611
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1316189390
rs1316189390
2 1.000 0.040 15 73343594 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1339374391
rs1339374391
1 1 156135973 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1355262401
rs1355262401
2 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1370940194
rs1370940194
1 12 5044419 missense variant C/T snv 4.4E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137854602
rs137854602
5 0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs137854605
rs137854605
2 1.000 0.120 3 38581337 missense variant GA/TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs137854606
rs137854606
4 0.882 0.120 3 38604062 missense variant C/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1415058026
rs1415058026
1 11 2588755 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2018 2018