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: rs1554907337
rs1554907337
1 1.000 0.280 10 121487390 missense variant G/A snv 0.700 0
dbSNP: rs879253720
rs879253720
1 1.000 0.280 10 121488028 inframe deletion TCT/- del 0.700 0
dbSNP: rs121918508
rs121918508
4 0.851 0.360 10 121488035 missense variant C/T snv 0.800 1.000 2 2006 2007
dbSNP: rs121918509
rs121918509
1 1.000 0.280 10 121488095 missense variant C/T snv 0.800 1.000 2 2006 2007
dbSNP: rs1554917471
rs1554917471
1 1.000 0.280 10 121500910 missense variant C/A snv 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs1434545235
rs1434545235
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121913116
rs121913116
9 0.763 0.360 4 1799395 missense variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs121913112
rs121913112
1 1.000 0.280 4 1805561 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.800 1.000 1 2006 2006
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs1453271838
rs1453271838
1 1.000 0.280 4 1806096 missense variant G/A snv 1.4E-05 0.710 1.000 1 2017 2017
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs886041251
rs886041251
3 0.882 0.360 3 189868614 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1554035469
rs1554035469
1 1.000 0.280 5 44305072 missense variant C/T snv 0.700 0
dbSNP: rs104893886
rs104893886
1 1.000 0.280 5 44305155 missense variant A/C snv 0.800 1.000 2 2006 2006