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: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
dbSNP: rs1163242089
rs1163242089
1 1.000 0.080 1 226885673 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1347757721
rs1347757721
1 1.000 0.080 1 226894058 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs140501902
rs140501902
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs143061887
rs143061887
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs200169735
rs200169735
2 0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs533813519
rs533813519
5 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs63750110
rs63750110
1 1.000 0.080 1 226895548 missense variant A/C snv 3.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750666
rs63750666
2 0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs63750812
rs63750812
2 0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1998 1998