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: rs1057516094
rs1057516094
2 0.923 0.036 20 63442420 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057516099
rs1057516099
2 0.923 0.036 20 63439624 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518928
rs1057518928
3 1.000 0.036 12 23665471 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057519524
rs1057519524
2 0.923 0.036 2 165386837 missense variant T/C snp 0.700 1 2015 2015
dbSNP: rs1057519526
rs1057519526
2 0.923 0.036 2 165344679 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057519527
rs1057519527
2 0.923 0.036 2 165374743 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057519528
rs1057519528
2 0.923 0.036 2 165310376 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057519529
rs1057519529
1 1.000 0.036 2 166043864 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs1057519532
rs1057519532
1 1.000 0.036 2 165994177 frameshift variant CAA/C in-del 0.700 1 2015 2015
dbSNP: rs1057519535
rs1057519535
2 0.923 0.036 20 63439652 missense variant C/A snp 0.700 1 2015 2015
dbSNP: rs1057519536
rs1057519536
2 0.923 0.036 20 63442424 missense variant A/T snp 0.700 1 2015 2015
dbSNP: rs1057519537
rs1057519537
1 1.000 0.036 9 127682423 stop gained G/A snp 0.700 1 2015 2015
dbSNP: rs1057519538
rs1057519538
1 1.000 0.036 9 127651622 inframe deletion TAAA/T in-del 0.700 1 2015 2015
dbSNP: rs1057519539
rs1057519539
1 1.000 0.036 9 127678479 stop gained G/A,T snp 0.700 1 2015 2015
dbSNP: rs1057519540
rs1057519540
2 0.923 0.036 12 51768895 missense variant A/G snp 0.700 1 2015 2015
dbSNP: rs1057519542
rs1057519542
1 1.000 0.036 X 18604376 frameshift variant C/CGACC in-del 0.700 1 2015 2015
dbSNP: rs1057519545
rs1057519545
1 1.000 0.036 6 33435225 missense variant G/C snp 0.700 1 2015 2015
dbSNP: rs1057519547
rs1057519547
2 0.923 0.036 5 45396550 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057519548
rs1057519548
2 0.923 0.036 5 45645575 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs1057519549
rs1057519549
2 0.923 0.036 15 26567655 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057519550
rs1057519550
2 0.923 0.036 15 26621403 missense variant T/G snp 0.700 1 2015 2015
dbSNP: rs1135401732
rs1135401732
1 1.000 0.036 1 244859303 stop gained C/A,T snp 4.0E-06 0.700 1 2018 2018
dbSNP: rs1135401733
rs1135401733
1 1.000 0.036 1 244856757 stop gained G/A snp 0.700 1 2018 2018
dbSNP: rs1135401734
rs1135401734
1 1.000 0.036 1 244855505 frameshift variant CAG/C in-del 0.700 1 2018 2018
dbSNP: rs118192211
rs118192211
10 0.784 0.071 20 63439644 missense variant G/A,C snp 0.700 1 2015 2015