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: rs606231410
rs606231410
2 0.925 0.120 6 33189443 missense variant C/A;T snv 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs794729665
rs794729665
2 0.925 0.120 6 24178385 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs879255246
rs879255246
2 0.925 0.120 2 26484568 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519601
rs1057519601
2 0.925 0.120 17 18171764 frameshift variant G/CCAGGCCCGTGCAGCTC delins 0.700 0
dbSNP: rs1057519603
rs1057519603
2 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0
dbSNP: rs1057519604
rs1057519604
2 0.925 0.120 17 18148937 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519606
rs1057519606
2 0.925 0.120 17 18159349 splice donor variant T/C snv 0.700 0
dbSNP: rs1057519607
rs1057519607
2 0.925 0.120 17 18178843 frameshift variant -/C delins 0.700 0
dbSNP: rs144964568
rs144964568
1 1.000 0.120 1 34785465 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1566538321
rs1566538321
1 1.000 0.120 13 20222994 frameshift variant G/- delins 0.700 0
dbSNP: rs772862268
rs772862268
1 1.000 0.120 13 20223159 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs774056663
rs774056663
2 0.925 0.200 10 53823256 frameshift variant -/ATAGTATT delins 2.8E-05 0.700 0
dbSNP: rs878854415
rs878854415
2 0.925 0.120 17 18144495 splice acceptor variant A/G snv 0.700 0
dbSNP: rs35887622
rs35887622
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.040 1.000 4 1998 2019
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.020 1.000 2 2010 2011
dbSNP: rs121908354
rs121908354
4 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs28931593
rs28931593
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.020 1.000 2 2005 2015
dbSNP: rs72474224
rs72474224
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.020 1.000 2 2015 2019
dbSNP: rs1064797088
rs1064797088
2 0.925 0.120 13 20189446 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs111033260
rs111033260
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs111033293
rs111033293
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs117685390
rs117685390
1 1.000 0.120 13 20193170 upstream gene variant A/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1185695012
rs1185695012
2 0.925 0.200 9 114403898 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121908073
rs121908073
3 0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs121908144
rs121908144
3 0.882 0.240 1 54999221 missense variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009