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: rs28931590
rs28931590
1 1.000 0.040 19 33302164 missense variant T/A snv 0.800 1.000 5 2001 2013
dbSNP: rs1060502121
rs1060502121
1 1.000 0.040 19 33302225 frameshift variant TGTCG/- del 0.700 0
dbSNP: rs121912791
rs121912791
1 1.000 0.040 19 33302267 stop gained C/A snv 0.700 0
dbSNP: rs137852728
rs137852728
1 1.000 0.040 19 33302347 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs137852730
rs137852730
1 1.000 0.040 19 33302274 frameshift variant G/- delins 0.700 0
dbSNP: rs137852731
rs137852731
1 1.000 0.040 19 33302213 frameshift variant -/TAGG delins 0.700 0
dbSNP: rs137852732
rs137852732
1 1.000 0.040 19 33302095 frameshift variant -/CA delins 0.700 0
dbSNP: rs137852733
rs137852733
1 1.000 0.040 19 33302197 frameshift variant -/G ins 0.700 0
dbSNP: rs1555741948
rs1555741948
1 1.000 0.040 19 33301423 inframe insertion -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG delins 0.700 0
dbSNP: rs1555741967
rs1555741967
1 1.000 0.040 19 33301463 inframe insertion -/GCTCCAGCACCTTCTGCTGCGTCTCCA delins 0.700 0
dbSNP: rs1555742213
rs1555742213
1 1.000 0.040 19 33302076 frameshift variant GGGCGCGC/- delins 0.700 0
dbSNP: rs1555742295
rs1555742295
1 1.000 0.040 19 33302295 frameshift variant -/G delins 0.700 0
dbSNP: rs587776848
rs587776848
1 1.000 0.040 19 33302294 frameshift variant GCGGGGC/- delins 0.700 0
dbSNP: rs587776849
rs587776849
1 1.000 0.040 19 33302200 frameshift variant -/CCGG delins 0.700 0
dbSNP: rs1356845856
rs1356845856
1 1.000 0.040 19 33302132 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs919904139
rs919904139
1 1.000 0.040 19 33302027 missense variant C/T snv 2.0E-04 0.010 1.000 1 2013 2013