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: rs397507505
rs397507505
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
dbSNP: rs397507506
rs397507506
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
dbSNP: rs397507510
rs397507510
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 22 2003 2017
dbSNP: rs121918461
rs121918461
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 25 2001 2016
dbSNP: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 8 2002 2012
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs397507511
rs397507511
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.800 1.000 2 2003 2016
dbSNP: rs121918453
rs121918453
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 7 2003 2016
dbSNP: rs121918454
rs121918454
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 3 2003 2016
dbSNP: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 3 2004 2014
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.870 1.000 10 2003 2019
dbSNP: rs121918465
rs121918465
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.800 1.000 13 2003 2016
dbSNP: rs397507514
rs397507514
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
dbSNP: rs121918466
rs121918466
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
dbSNP: rs121918456
rs121918456
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121918458
rs121918458
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
dbSNP: rs397507545
rs397507545
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 13 2003 2017
dbSNP: rs397507546
rs397507546
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 2 2003 2016
dbSNP: rs397507547
rs397507547
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016