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: rs1187237313
rs1187237313
1 1.000 0.120 7 20727052 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs200567888
rs200567888
1 1.000 0.120 3 89210327 missense variant G/T snv 1.2E-03 9.8E-04 0.700 0
dbSNP: rs370640837
rs370640837
1 1.000 0.120 2 215019657 missense variant G/A;T snv 1.8E-04 0.700 0
dbSNP: rs61732239
rs61732239
ADA
2 1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03 0.700 0
dbSNP: rs757430763
rs757430763
1 1.000 0.120 4 8061051 missense variant C/T snv 4.4E-05 0.700 0
dbSNP: rs772906202
rs772906202
1 1.000 0.120 19 15110668 missense variant G/A snv 3.1E-05 7.0E-06 0.700 0
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs10109853
rs10109853
1 1.000 0.120 8 40005362 missense variant C/T snv 0.48 0.46 0.010 1.000 1 2018 2018
dbSNP: rs1037189404
rs1037189404
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1399364791
rs1399364791
3 0.882 0.240 12 55967046 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs372883
rs372883
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs4503083
rs4503083
2 0.925 0.120 8 40015416 stop gained T/A snv 0.23 0.19 0.010 1.000 1 2018 2018
dbSNP: rs757238433
rs757238433
3 0.882 0.200 15 88655497 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs757797666
rs757797666
3 0.925 0.240 18 22171617 missense variant G/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs762581936
rs762581936
5 0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs766333007
rs766333007
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012