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: rs1392120633
rs1392120633
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs587777308
rs587777308
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs1043614377
rs1043614377
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1060499553
rs1060499553
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1135401732
rs1135401732
1 1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401733
rs1135401733
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401734
rs1135401734
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs375108991
rs375108991
1 1.000 0.040 9 35092599 stop gained G/A;C snv 2.8E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs375818497
rs375818497
1 1.000 0.040 16 29813554 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906685
rs387906685
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs397518447
rs397518447
2 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs727503940
rs727503940
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503973
rs727503973
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs764159748
rs764159748
1 1.000 0.040 9 35092602 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs766910280
rs766910280
3 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs769074339
rs769074339
1 1.000 0.040 1 26797650 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs775162839
rs775162839
1 1.000 0.040 4 39505705 missense variant C/T snv 4.8E-05 5.6E-05 0.700 1.000 1 2020 2020
dbSNP: rs779453109
rs779453109
1 1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs786205232
rs786205232
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs796052491
rs796052491
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs796053174
rs796053174
1 1.000 0.040 2 165310515 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs886040861
rs886040861
2 0.925 0.040 19 48419722 missense variant G/A snv 0.010 1.000 1 2016 2016