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: rs1060500702
rs1060500702
1 1.000 0.160 3 37007050 missense variant G/A;C snv 0.700 0
dbSNP: rs1060501991
rs1060501991
2 1.000 0.160 2 47480695 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1064793489
rs1064793489
2 1.000 0.160 2 47805027 splice donor variant G/- delins 0.700 0
dbSNP: rs1064793600
rs1064793600
1 1.000 0.160 2 47799597 inframe deletion CTT/- delins 7.0E-06 0.700 0
dbSNP: rs1064794566
rs1064794566
2 1.000 0.160 7 5986795 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1064796500
rs1064796500
1 1.000 0.160 7 5973455 frameshift variant G/- delins 0.700 0
dbSNP: rs1085308057
rs1085308057
3 0.925 0.160 2 47475244 missense variant A/G snv 0.700 0
dbSNP: rs111052004
rs111052004
2 0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1114167720
rs1114167720
2 1.000 0.160 2 47806490 frameshift variant -/GAGACTA delins 0.700 0
dbSNP: rs1114167729
rs1114167729
2 1.000 0.160 2 47806652 splice donor variant G/C snv 0.700 0
dbSNP: rs1114167811
rs1114167811
2 1.000 0.160 2 47475166 stop gained T/G snv 0.700 0
dbSNP: rs1114167817
rs1114167817
2 1.000 0.160 2 47466802 frameshift variant C/- delins 0.700 0
dbSNP: rs1114167828
rs1114167828
2 1.000 0.160 2 47480696 frameshift variant GT/- delins 0.700 0
dbSNP: rs1114167883
rs1114167883
3 1.000 0.160 2 47403403 splice donor variant G/T snv 0.700 0
dbSNP: rs11541859
rs11541859
1 1.000 0.160 3 37001012 stop gained G/T snv 0.700 0
dbSNP: rs121912965
rs121912965
3 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.700 0
dbSNP: rs1230083633
rs1230083633
2 1.000 0.160 2 47482800 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1244531716
rs1244531716
1 1.000 0.160 2 47799422 missense variant T/A snv 4.0E-06 0.700 0
dbSNP: rs12476364
rs12476364
3 1.000 0.160 2 47416295 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs1251033858
rs1251033858
1 1.000 0.160 2 47799235 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1278858560
rs1278858560
1 1.000 0.160 2 47478521 splice donor variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1333555322
rs1333555322
1 1.000 0.160 2 47799976 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1416452389
rs1416452389
1 1.000 0.160 2 47806590 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs143277125
rs143277125
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1481129490
rs1481129490
1 1.000 0.160 3 37008903 splice region variant C/G;T snv 4.0E-06 0.700 0