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: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1060502121
rs1060502121
1 1.000 0.040 19 33302225 frameshift variant TGTCG/- del 0.700 0
dbSNP: rs1169288572
rs1169288572
1 1.000 0.040 3 47122237 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121434637
rs121434637
1 1.000 0.040 12 11839202 stop gained G/T snv 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: rs1466524306
rs1466524306
1 1.000 0.040 13 99295133 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1554138188
rs1554138188
1 1.000 0.040 5 171410541 frameshift variant -/CATG;CGTG delins 0.700 0
dbSNP: rs1554138189
rs1554138189
1 1.000 0.040 5 171410540 frameshift variant -/CCTG delins 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: rs1561878500
rs1561878500
1 1.000 0.040 5 171410549 frameshift variant GGAGGAA/CCCTGGCTAGG delins 0.700 0
dbSNP: rs1562206791
rs1562206791
2 0.925 0.080 5 177210250 frameshift variant A/- delins 0.700 0
dbSNP: rs387907097
rs387907097
2 0.925 0.120 20 2417445 missense variant T/G snv 1.5E-04 5.6E-05 0.700 0
dbSNP: rs398122514
rs398122514
1 1.000 0.040 13 28018487 inframe insertion -/TCCGGA delins 4.0E-06 0.700 0
dbSNP: rs569067880
rs569067880
2 0.925 0.080 4 105234864 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs587776710
rs587776710
1 1.000 0.040 12 11890994 protein altering variant -/GGG ins 0.700 0
dbSNP: rs587776806
rs587776806
1 1.000 0.040 5 171410539 frameshift variant -/TCTG delins 0.700 0
dbSNP: rs587776848
rs587776848
1 1.000 0.040 19 33302294 frameshift variant GCGGGGC/- delins 0.700 0