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: rs457717
rs457717
1 5 76625147 intron variant A/G snv 0.65 0.810 1.000 2 2010 2016
dbSNP: rs72474224
rs72474224
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.800 0.900 10 2004 2017
dbSNP: rs35887622
rs35887622
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.740 0.833 6 2001 2012
dbSNP: rs80338950
rs80338950
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.730 0.667 3 2010 2017
dbSNP: rs104894402
rs104894402
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.720 1.000 2 2000 2001
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.720 1.000 2 2005 2007
dbSNP: rs80338948
rs80338948
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.720 1.000 2 2005 2019
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.710 1.000 1 2019 2019
dbSNP: rs104894407
rs104894407
3 0.925 0.120 13 20189450 stop gained C/G;T snv 2.8E-05 0.710 1.000 1 2001 2001
dbSNP: rs121908354
rs121908354
4 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs397516874
rs397516874
2 1.000 0.120 13 20189212 stop gained G/A snv 8.4E-05 0.710 1.000 1 2017 2017
dbSNP: rs80338941
rs80338941
2 1.000 0.120 13 20189526 missense variant C/A;G snv 2.8E-05; 1.2E-05 0.710 1.000 1 2005 2005
dbSNP: rs1057519464
rs1057519464
7 0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519468
rs1057519468
6 0.925 0.160 15 72345518 stop gained C/T snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs121907966
rs121907966
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
dbSNP: rs121907972
rs121907972
6 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs1554958045
rs1554958045
3 1.000 0.080 11 2445213 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs2839580
rs2839580
1 21 42736981 intron variant T/A;G snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs6132107
rs6132107
1 20 18726094 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs7720606
rs7720606
2 1.000 0.080 5 127216040 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs786204585
rs786204585
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs879253799
rs879253799
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs104894398
rs104894398
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
dbSNP: rs104894409
rs104894409
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.700 0