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: rs1559921973
rs1559921973
1 1.000 0.200 3 138945905 stop gained G/T snv 0.700 0
dbSNP: rs1559922013
rs1559922013
1 1.000 0.200 3 138945939 stop gained G/A snv 0.700 0
dbSNP: rs1559922026
rs1559922026
1 1.000 0.200 3 138945950 frameshift variant T/- del 0.700 0
dbSNP: rs1559922033
rs1559922033
1 1.000 0.200 3 138945953 frameshift variant -/CCGTACGAGGCGGCCGGGCCCGCCAGCCCCTTGACCACAGCGGCCGCGCCAGGGCTACCGGGGCCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC delins 0.700 0
dbSNP: rs1559922136
rs1559922136
1 1.000 0.200 3 138946042 frameshift variant TGCAGCCGCTGCG/- del 0.700 0
dbSNP: rs1559922257
rs1559922257
1 1.000 0.200 3 138946171 frameshift variant -/T delins 0.700 0
dbSNP: rs1559922261
rs1559922261
1 1.000 0.200 3 138946173 frameshift variant -/G delins 0.700 0
dbSNP: rs1559922308
rs1559922308
1 1.000 0.200 3 138946198 frameshift variant C/- delins 0.700 0
dbSNP: rs1559922381
rs1559922381
1 1.000 0.200 3 138946253 frameshift variant -/CGGAAGGGCCTCTTCATGCGGCGGC delins 0.700 0
dbSNP: rs1559922462
rs1559922462
1 1.000 0.200 3 138946324 frameshift variant G/- delins 0.700 0
dbSNP: rs1559922470
rs1559922470
1 1.000 0.200 3 138946336 frameshift variant C/- del 0.700 0
dbSNP: rs1559922472
rs1559922472
1 1.000 0.200 3 138946339 stop gained C/T snv 0.700 0
dbSNP: rs1559922473
rs1559922473
1 1.000 0.200 3 138946339 frameshift variant C/- delins 0.700 0
dbSNP: rs1559922476
rs1559922476
1 1.000 0.200 3 138946342 stop gained -/AGTT delins 0.700 0
dbSNP: rs1559922498
rs1559922498
1 1.000 0.200 3 138946383 inframe deletion TGA/- delins 0.700 0
dbSNP: rs1559922528
rs1559922528
1 1.000 0.200 3 138946425 missense variant T/C snv 0.700 0
dbSNP: rs1559922558
rs1559922558
1 1.000 0.200 3 138946461 missense variant A/T snv 0.700 0
dbSNP: rs1559922577
rs1559922577
1 1.000 0.200 3 138946493 missense variant A/G snv 0.700 0
dbSNP: rs1559922621
rs1559922621
1 1.000 0.200 3 138946530 missense variant T/C snv 0.700 0
dbSNP: rs1559922628
rs1559922628
1 1.000 0.200 3 138946537 frameshift variant CGCCACGTACGAG/- delins 0.700 0
dbSNP: rs1559922634
rs1559922634
1 1.000 0.200 3 138946548 missense variant A/C snv 0.700 0
dbSNP: rs1559922647
rs1559922647
1 1.000 0.200 3 138946554 missense variant A/T snv 0.700 0
dbSNP: rs1559922657
rs1559922657
1 1.000 0.200 3 138946563 missense variant T/C snv 0.700 0
dbSNP: rs1559922782
rs1559922782
1 1.000 0.200 3 138946670 frameshift variant GG/- delins 0.700 0
dbSNP: rs1559922829
rs1559922829
1 1.000 0.200 3 138946705 frameshift variant G/- delins 0.700 0