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: rs104893915
rs104893915
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.750 1.000 18 1996 2016
dbSNP: rs104893920
rs104893920
3 0.882 0.120 5 149980866 missense variant A/G snv 0.710 1.000 1 1997 1997
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: 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: 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: rs104893919
rs104893919
5 0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 0.700 1.000 5 1996 2011
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: 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: rs1057517461
rs1057517461
4 0.851 0.120 5 149978353 splice donor variant T/C snv 0.700 1.000 1 1999 1999
dbSNP: rs1057517513
rs1057517513
4 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs386833495
rs386833495
4 0.851 0.120 5 149980984 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs386833499
rs386833499
4 0.851 0.120 5 149981565 frameshift variant T/- delins 0.700 1.000 1 2001 2001
dbSNP: rs763198695
rs763198695
5 0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs786200881
rs786200881
4 0.851 0.120 5 149978041 frameshift variant C/- delins 0.700 1.000 1 1996 1996
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: rs104893921
rs104893921
2 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1057517462
rs1057517462
4 0.851 0.120 5 149977857 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517471
rs1057517471
4 0.851 0.120 5 149980903 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517474
rs1057517474
4 0.851 0.120 5 149981546 frameshift variant ACTG/- delins 0.700 0
dbSNP: rs1057517482
rs1057517482
4 0.851 0.120 5 149981240 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517483
rs1057517483
4 0.851 0.120 5 149978193 stop gained C/T snv 0.700 0
dbSNP: rs1057517495
rs1057517495
4 0.851 0.120 5 149980515 frameshift variant A/- del 0.700 0
dbSNP: rs1057517496
rs1057517496
4 0.851 0.120 5 149977840 frameshift variant A/- del 0.700 0
dbSNP: rs1057517502
rs1057517502
4 0.851 0.120 5 149980929 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517504
rs1057517504
4 0.851 0.120 5 149977886 frameshift variant -/GCAGT delins 0.700 0