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: rs148412181
rs148412181
3 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.800 1.000 17 1995 2017
dbSNP: rs386833631
rs386833631
1 1.000 0.120 1 40092507 missense variant C/T snv 0.800 1.000 13 1995 2012
dbSNP: rs137852695
rs137852695
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.800 1.000 9 1995 2016
dbSNP: rs137852696
rs137852696
3 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.800 1.000 9 1995 2013
dbSNP: rs137852699
rs137852699
1 1.000 0.120 1 40097210 stop gained A/T snv 8.0E-05 4.2E-05 0.700 1.000 9 1998 2014
dbSNP: rs386833650
rs386833650
1 1.000 0.120 1 40089417 stop gained G/A;C snv 3.6E-05 0.800 1.000 9 1995 2012
dbSNP: rs137852697
rs137852697
1 1.000 0.120 1 40092171 missense variant T/C snv 4.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs137852698
rs137852698
2 0.925 0.120 1 40078630 missense variant A/T snv 0.800 1.000 7 1995 2012
dbSNP: rs137852701
rs137852701
1 1.000 0.120 1 40092085 missense variant C/G snv 0.800 1.000 7 1995 2012
dbSNP: rs137852702
rs137852702
1 1.000 0.120 1 40092498 missense variant C/T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833626
rs386833626
1 1.000 0.120 1 40097125 stop gained C/A;T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833627
rs386833627
1 1.000 0.120 1 40097122 missense variant A/T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833642
rs386833642
1 1.000 0.120 1 40092082 missense variant A/C snv 4.0E-06 7.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833646
rs386833646
1 1.000 0.120 1 40091349 missense variant G/A snv 2.0E-05 4.9E-05 0.700 1.000 7 1995 2012
dbSNP: rs386833647
rs386833647
1 1.000 0.120 1 40089491 missense variant C/T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833657
rs386833657
1 1.000 0.120 1 40080464 missense variant T/C snv 0.800 1.000 7 1995 2012
dbSNP: rs386833658
rs386833658
1 1.000 0.120 1 40080458 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833661
rs386833661
1 1.000 0.120 1 40078621 missense variant A/G snv 1.4E-05 0.800 1.000 7 1995 2012
dbSNP: rs386833663
rs386833663
1 1.000 0.120 1 40078603 missense variant A/C snv 0.800 1.000 7 1995 2012
dbSNP: rs386833665
rs386833665
1 1.000 0.120 1 40076901 missense variant A/G snv 8.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833666
rs386833666
1 1.000 0.120 1 40076891 missense variant C/A;T snv 0.800 1.000 7 1995 2012
dbSNP: rs386833669
rs386833669
1 1.000 0.120 1 40074096 missense variant A/G snv 7.0E-06 0.800 1.000 7 1995 2012
dbSNP: rs386833671
rs386833671
1 1.000 0.120 1 40074068 missense variant A/C;G snv 0.800 1.000 7 1995 2012
dbSNP: rs386833655
rs386833655
1 1.000 0.120 1 40080474 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 5 1998 2006
dbSNP: rs137852700
rs137852700
4 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2013