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: rs1558005340
rs1558005340
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1166021430
rs1166021430
2 0.925 0.200 16 88727652 stop gained C/T snv 1.8E-05 2.8E-05 0.700 0
dbSNP: rs1567659736
rs1567659736
2 0.925 0.200 16 88719917 missense variant T/G snv 0.700 0
dbSNP: rs387906692
rs387906692
11 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
dbSNP: rs483352822
rs483352822
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs730881014
rs730881014
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs267607048
rs267607048
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs369428934
rs369428934
2 0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs773162208
rs773162208
2 0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs786205745
rs786205745
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs79891110
rs79891110
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.010 1.000 1 2016 2016