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: rs397508087
rs397508087
2 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs397508101
rs397508101
1 11 2847812 inframe deletion CCA/- delins 0.700 0
dbSNP: rs74315447
rs74315447
3 0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04 0.700 0
dbSNP: rs794728425
rs794728425
2 1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins 0.700 0
dbSNP: rs794728426
rs794728426
1 7 150958163 frameshift variant CGCG/GCTTTT delins 0.700 0
dbSNP: rs794728428
rs794728428
1 7 150958116 frameshift variant TCGGCCG/- delins 0.700 0
dbSNP: rs794728434
rs794728434
1 7 150952777 frameshift variant -/CAGG delins 0.700 0
dbSNP: rs794728456
rs794728456
1 7 150947794 frameshift variant G/- delins 0.700 0
dbSNP: rs794728457
rs794728457
1 7 150947782 frameshift variant TCTCCCC/- delins 0.700 0
dbSNP: rs794728464
rs794728464
1 7 150947512 splice region variant -/CTGC delins 0.700 0
dbSNP: rs794728465
rs794728465
1 7 150947400 frameshift variant -/G delins 0.700 0
dbSNP: rs794728467
rs794728467
1 7 150947380 frameshift variant -/CCGCC;CGCC delins 0.700 0
dbSNP: rs794728470
rs794728470
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728472
rs794728472
1 7 150947344 frameshift variant G/- delins 0.700 0
dbSNP: rs794728476
rs794728476
1 7 150974765 inframe insertion -/ATCTGCGCG delins 0.700 0
dbSNP: rs794728489
rs794728489
1 7 150959670 frameshift variant -/CCAC ins 0.700 0
dbSNP: rs794728497
rs794728497
1 7 150952840 frameshift variant C/- delins 0.700 0
dbSNP: rs794728499
rs794728499
1 7 150951578 frameshift variant G/- delins 0.700 0
dbSNP: rs794728500
rs794728500
1 7 150951013 frameshift variant G/- delins 0.700 0
dbSNP: rs794728506
rs794728506
1 7 150974918 frameshift variant C/- del 0.700 0
dbSNP: rs794728507
rs794728507
1 7 150974912 frameshift variant C/- delins 0.700 0
dbSNP: rs794728508
rs794728508
2 1.000 0.120 7 150974864 frameshift variant A/- del 0.700 0
dbSNP: rs794728563
rs794728563
1 11 2445260 frameshift variant GCCCGGCGCCCCAGGTCCCGCGC/- delins 0.700 0
dbSNP: rs1204372364
rs1204372364
2 1.000 0.120 4 113355900 missense variant T/C snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1370940194
rs1370940194
1 12 5044419 missense variant C/T snv 4.4E-06 0.010 < 0.001 1 2007 2007