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: rs112741962
rs112741962
1 1.000 0.080 3 48467394 missense variant G/C snv 1.2E-04 4.6E-04 0.700 0
dbSNP: rs113107733
rs113107733
1 1.000 0.080 3 48467334 missense variant G/A snv 1.3E-04 5.0E-04 0.700 0
dbSNP: rs1307379746
rs1307379746
1 1.000 0.080 8 11556804 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs141865425
rs141865425
1 1.000 0.080 8 11555425 missense variant G/A snv 3.1E-03 3.0E-03 0.700 0
dbSNP: rs146505280
rs146505280
BLK
1 1.000 0.080 8 11561347 missense variant C/T snv 8.6E-04 6.4E-04 0.700 0
dbSNP: rs1565789104
rs1565789104
2 0.925 0.120 12 49038730 frameshift variant G/- delins 0.700 0
dbSNP: rs73663163
rs73663163
BLK
1 1.000 0.080 8 11550181 missense variant C/A;G;T snv 2.0E-03; 5.2E-04 0.700 0
dbSNP: rs758750492
rs758750492
BLK
1 1.000 0.080 8 11561320 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs759191907
rs759191907
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs760838030
rs760838030
5 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs780022923
rs780022923
1 1.000 0.080 3 48467572 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 < 0.001 2 2014 2018
dbSNP: rs10496105
rs10496105
1 1.000 0.080 2 64093612 3 prime UTR variant G/A snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs10840759
rs10840759
3 0.882 0.200 12 8138610 intron variant C/T snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs1152888
rs1152888
1 1.000 0.080 12 66211448 missense variant A/C;G snv 4.0E-06; 0.87 0.010 < 0.001 1 2012 2012
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1206255976
rs1206255976
4 0.851 0.160 1 22637618 start lost T/G snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 < 0.001 1 2007 2007
dbSNP: rs1734791
rs1734791
1 1.000 0.080 X 154065469 intron variant A/T snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs1734792
rs1734792
1 1.000 0.080 X 154075609 intron variant C/A snv 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs17435
rs17435
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 < 0.001 1 2017 2017