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: rs1562988883
rs1562988883
3 0.882 0.120 7 128830784 frameshift variant C/TCT delins 0.700 0
dbSNP: rs1562995872
rs1562995872
1 1.000 0.120 7 128843554 inframe deletion TCAAGTACACCG/- delins 0.700 0
dbSNP: rs1562998858
rs1562998858
3 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0
dbSNP: rs1562999451
rs1562999451
3 0.882 0.120 7 128848601 stop gained A/T snv 0.700 0
dbSNP: rs1563000044
rs1563000044
3 0.882 0.120 7 128849348 stop gained C/T snv 0.700 0
dbSNP: rs1563001456
rs1563001456
3 0.882 0.120 7 128851345 stop gained A/T snv 0.700 0
dbSNP: rs1563001548
rs1563001548
3 0.882 0.120 7 128851454 coding sequence variant G/- delins 0.700 0
dbSNP: rs1563003153
rs1563003153
3 0.882 0.120 7 128853799 frameshift variant C/- delins 0.700 0
dbSNP: rs199976790
rs199976790
3 0.882 0.120 7 128840603 stop gained C/A;T snv 6.0E-05 8.4E-05 0.700 0
dbSNP: rs755583250
rs755583250
3 0.882 0.120 7 128837503 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs763330423
rs763330423
3 0.882 0.120 7 128840159 splice donor variant AAGT/- del 4.0E-06 0.700 0
dbSNP: rs766330686
rs766330686
3 0.882 0.120 7 128846136 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs770606675
rs770606675
3 0.882 0.120 7 128841304 stop gained C/G;T snv 4.0E-06 0.700 0