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: rs1057516173
rs1057516173
1 1.000 0.200 3 138946020 inframe insertion GGCTGCAGCCGCAGCTGCTGCAGCCGC/-;GGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC delins 0.700 0
dbSNP: rs1057516174
rs1057516174
1 1.000 0.200 3 138946018 frameshift variant CGCGGCTGCAGCCGCAGCTGCTGCAGCC/- delins 0.700 0
dbSNP: rs1057516175
rs1057516175
1 1.000 0.200 3 138945974 frameshift variant CC/- delins 0.700 0
dbSNP: rs1057516176
rs1057516176
1 1.000 0.200 3 138945945 frameshift variant -/T delins 0.700 0
dbSNP: rs1057516178
rs1057516178
1 1.000 0.200 3 138945895 frameshift variant -/C delins 0.700 0
dbSNP: rs1057516179
rs1057516179
1 1.000 0.200 3 138945852 frameshift variant GGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGG/- delins 0.700 0
dbSNP: rs1057516180
rs1057516180
1 1.000 0.200 3 138945866 frameshift variant GG/T delins 0.700 0
dbSNP: rs1057516181
rs1057516181
1 1.000 0.200 3 138945830 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516182
rs1057516182
1 1.000 0.200 3 138945796 frameshift variant -/GGCAGGCGGCGGTGCGGCGG delins 0.700 0
dbSNP: rs1057516183
rs1057516183
1 1.000 0.200 3 138945761 frameshift variant -/CCGGCGGCGGC delins 0.700 0
dbSNP: rs1057516184
rs1057516184
1 1.000 0.200 3 138945741 frameshift variant C/- del 0.700 0
dbSNP: rs1057516185
rs1057516185
1 1.000 0.200 3 138945712 frameshift variant G/- delins 0.700 0
dbSNP: rs1060499717
rs1060499717
1 1.000 0.200 3 138946233 stop gained T/A snv 0.700 0
dbSNP: rs121908359
rs121908359
4 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.700 0
dbSNP: rs1226344391
rs1226344391
1 1.000 0.200 3 138946457 missense variant G/A;C snv 0.700 0
dbSNP: rs1315073489
rs1315073489
1 1.000 0.200 3 138946535 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1553752849
rs1553752849
1 1.000 0.200 3 138946022 protein altering variant -/GCGGCTGCAGCCGCAGCTGCTGCAGCCGCT ins 0.700 0
dbSNP: rs1553752890
rs1553752890
1 1.000 0.200 3 138946246 frameshift variant -/TGCGCGGGCGGCGGCCGGAAGGGCCTCTTCATGCGGCGGCGGCGCCGGTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCT delins 0.700 0
dbSNP: rs1553752945
rs1553752945
1 1.000 0.200 3 138946620 frameshift variant -/T delins 0.700 0
dbSNP: rs1559921677
rs1559921677
1 1.000 0.200 3 138945620 frameshift variant C/- delins 0.700 0
dbSNP: rs1559921797
rs1559921797
1 1.000 0.200 3 138945724 frameshift variant -/G delins 0.700 0
dbSNP: rs1559921800
rs1559921800
1 1.000 0.200 3 138945726 frameshift variant GGGGCGCGGCGGTGGCTGGGCTGGCAGGGCTGAGCTGGCCCGGCGGCGGCGCGGCGGCCCCGT/CGCCGCCGCC delins 0.700 0
dbSNP: rs1559921849
rs1559921849
1 1.000 0.200 3 138945778 frameshift variant -/CGGCCCCG delins 0.700 0
dbSNP: rs1559921874
rs1559921874
1 1.000 0.200 3 138945811 frameshift variant -/CGGCGGCCGCG delins 0.700 0
dbSNP: rs1559921944
rs1559921944
1 1.000 0.200 3 138945881 frameshift variant -/A ins 0.700 0