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: rs1057516127
rs1057516127
4 0.925 0.080 19 11123200 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1057516128
rs1057516128
1 1.000 0.080 19 11113584 missense variant A/G snv 0.700 0
dbSNP: rs1057516129
rs1057516129
1 1.000 0.080 19 11102706 frameshift variant G/- del 0.700 0
dbSNP: rs1057516130
rs1057516130
1 1.000 0.080 19 11107479 frameshift variant G/- del 0.700 0
dbSNP: rs1057516132
rs1057516132
2 0.925 0.080 19 11105245 frameshift variant TTTCG/- delins 0.700 0
dbSNP: rs1057516133
rs1057516133
1 1.000 0.080 19 11105275 frameshift variant -/C delins 0.700 0
dbSNP: rs1057516134
rs1057516134
2 0.925 0.080 19 11120123 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516135
rs1057516135
2 0.925 0.080 19 11105372 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519647
rs1057519647
1 1.000 0.080 19 11089381 upstream gene variant A/G snv 0.700 0
dbSNP: rs1057519648
rs1057519648
1 1.000 0.080 19 11089394 upstream gene variant ACCCCA/- del 0.700 0
dbSNP: rs1057519649
rs1057519649
1 1.000 0.080 19 11089422 upstream gene variant -/A delins 0.700 0
dbSNP: rs1057519650
rs1057519650
1 1.000 0.080 19 11089450 upstream gene variant A/G snv 0.700 0
dbSNP: rs1057519652
rs1057519652
1 1.000 0.080 19 11102675 missense variant T/C snv 0.700 0
dbSNP: rs1057519653
rs1057519653
1 1.000 0.080 19 11102715 frameshift variant -/TGCATTC delins 0.700 0
dbSNP: rs1057519654
rs1057519654
1 1.000 0.080 19 11105233 stop gained C/A snv 0.700 0
dbSNP: rs1057519655
rs1057519655
2 1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1057519657
rs1057519657
1 1.000 0.080 19 11105564 frameshift variant -/CGACTGC delins 0.700 0
dbSNP: rs1057519659
rs1057519659
1 1.000 0.080 19 11105579 frameshift variant AATCTGACGA/- delins 0.700 0
dbSNP: rs1057519660
rs1057519660
1 1.000 0.080 19 11105583 frameshift variant ACGAGGAAAACTG/- delins 0.700 0
dbSNP: rs1057519662
rs1057519662
1 1.000 0.080 19 11105570 frameshift variant -/CAAGGACAAATCTGACG delins 0.700 0
dbSNP: rs1057519663
rs1057519663
1 1.000 0.080 19 11106653 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs1057519664
rs1057519664
1 1.000 0.080 19 11107498 missense variant A/T snv 0.700 0
dbSNP: rs1057519665
rs1057519665
2 1.000 0.080 19 11107510 splice donor variant GGTGAGTCTCGGTGC/- delins 0.700 0
dbSNP: rs1057519666
rs1057519666
1 1.000 0.080 19 11107513 splice donor variant -/G delins 0.700 0
dbSNP: rs1057519667
rs1057519667
4 0.851 0.120 19 11113277 splice acceptor variant G/- delins 0.700 0