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: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.710 1.000 2 2015 2017
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.710 1.000 2 2008 2016
dbSNP: rs121913482
rs121913482
30 0.685 0.393 4 1801837 missense variant C/T snp 0.710 1.000 2 2016 2016
dbSNP: rs121913483
rs121913483
13 0.734 0.250 4 1801841 missense variant C/A,G,T snp 4.2E-06; 1.3E-05 3.2E-05 0.710 1.000 2 2016 2016
dbSNP: rs121913444
rs121913444
7 0.801 0.107 7 55191831 missense variant T/A,C,G snp 0.700 3 2012 2016
dbSNP: rs11571818
rs11571818
10 0.744 0.250 13 32394673 intron variant T/C snp 6.6E-03 5.5E-03 0.700 2 2017 2017
dbSNP: rs121913428
rs121913428
4 0.846 0.071 7 55174015 missense variant G/A,C snp 0.700 2 2012 2013
dbSNP: rs121913465
rs121913465
5 0.821 0.143 7 55181312 missense variant G/T snp 0.700 2 2012 2013
dbSNP: rs56404467
rs56404467
FRY
10 0.744 0.250 13 32265853 intron variant G/A snp 1.2E-02 0.700 2 2017 2017
dbSNP: rs1011970
rs1011970
13 0.715 0.286 9 22062135 intron variant G/T snp 0.22 0.700 1 2017 2017
dbSNP: rs10146472
rs10146472
1 1.000 0.071 14 33545815 intron variant A/G snp 0.27 0.700 1 2017 2017
dbSNP: rs1023835002
rs1023835002
10 0.756 0.250 15 44711547 start lost A/G snp 0.700 1 2016 2016
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs104894104
rs104894104
7 0.784 0.143 9 21971019 missense variant G/A,T snp 0.700 1 2016 2016
dbSNP: rs104894226
rs104894226
19 0.692 0.464 11 534285 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894228
rs104894228
26 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519789
rs1057519789
2 0.923 0.071 1 162775707 missense variant A/G,T snp 4.0E-06 0.700 1 2012 2012
dbSNP: rs1057519790
rs1057519790
2 0.923 0.071 1 162778617 missense variant G/T snp 0.700 1 2012 2012
dbSNP: rs1057519791
rs1057519791
1 1.000 0.071 10 121518810 missense variant G/C snp 0.700 1 2014 2014
dbSNP: rs1057519877
rs1057519877
10 0.756 0.250 15 44711549 start lost G/A snp 0.700 1 2016 2016
dbSNP: rs1057519879
rs1057519879
10 0.756 0.250 15 44711548 start lost T/C,G snp 0.700 1 2016 2016
dbSNP: rs1057519882
rs1057519882
7 0.801 0.179 9 21974678 missense variant C/A snp 0.700 1 2016 2016
dbSNP: rs1057519883
rs1057519883
11 0.744 0.250 9 21971120 missense variant C/G,T snp 3.2E-05 0.700 1 2016 2016
dbSNP: rs1057519884
rs1057519884
10 0.756 0.214 16 3738616 missense variant C/A,T snp 0.700 1 2016 2016
dbSNP: rs1057519889
rs1057519889
5 0.821 0.179 22 41169525 missense variant G/A,T snp 0.700 1 2016 2016