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: rs104893918
rs104893918
4 0.851 0.120 5 149981737 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 5 1996 2012
dbSNP: rs386833501
rs386833501
1 1.000 0.120 5 149981713 frameshift variant TT/- del 0.700 0
dbSNP: rs104893916
rs104893916
3 0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1057517513
rs1057517513
4 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs386833500
rs386833500
1 1.000 0.120 5 149981576 frameshift variant A/- del 0.700 0
dbSNP: rs762137330
rs762137330
4 0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 0.700 0
dbSNP: rs386833499
rs386833499
4 0.851 0.120 5 149981565 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs104893924
rs104893924
5 0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 0.700 1.000 8 2001 2012
dbSNP: rs1057517474
rs1057517474
4 0.851 0.120 5 149981546 frameshift variant ACTG/- delins 0.700 0
dbSNP: rs1057517530
rs1057517530
4 0.851 0.120 5 149981399 frameshift variant AACT/- del 0.700 0
dbSNP: rs386833498
rs386833498
5 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
dbSNP: rs766836061
rs766836061
5 0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 1996 1996
dbSNP: rs386833497
rs386833497
4 0.851 0.120 5 149981243 frameshift variant G/- del 8.0E-06 2.8E-05 0.700 1.000 5 2001 2010
dbSNP: rs1057517482
rs1057517482
4 0.851 0.120 5 149981240 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517511
rs1057517511
4 0.851 0.120 5 149981129 frameshift variant -/GTTAT delins 0.700 0
dbSNP: rs121908078
rs121908078
2 0.925 0.120 5 149981128 missense variant C/A snv 4.8E-05 7.0E-06 0.710 1.000 1 2008 2008
dbSNP: rs386833496
rs386833496
1 1.000 0.120 5 149981044 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs386833495
rs386833495
4 0.851 0.120 5 149980984 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs104893921
rs104893921
2 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1057517502
rs1057517502
4 0.851 0.120 5 149980929 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517471
rs1057517471
4 0.851 0.120 5 149980903 frameshift variant -/T delins 0.700 0
dbSNP: rs104893920
rs104893920
3 0.882 0.120 5 149980866 missense variant A/G snv 0.710 1.000 1 1997 1997
dbSNP: rs386833494
rs386833494
1 1.000 0.120 5 149980834 frameshift variant AAAC/- delins 0.700 0
dbSNP: rs386833493
rs386833493
1 1.000 0.120 5 149980750 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1057517532
rs1057517532
4 0.851 0.120 5 149980653 stop gained G/T snv 0.700 0