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: rs104893750
rs104893750
3 0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 7 2002 2017
dbSNP: rs104893823
rs104893823
5 0.882 0.040 3 52451285 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894204
rs104894204
4 0.882 0.040 11 19188245 missense variant A/C snv 0.030 1.000 3 2004 2018
dbSNP: rs104894205
rs104894205
3 0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs104894368
rs104894368
4 0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05 0.710 1.000 11 1996 2016
dbSNP: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.740 1.000 17 1998 2019
dbSNP: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs104894502
rs104894502
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.040 1.000 4 2000 2014
dbSNP: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 28 1994 2019
dbSNP: rs104894504
rs104894504
2 0.925 0.080 15 63057028 missense variant T/C snv 0.710 1.000 4 2001 2011
dbSNP: rs104894630
rs104894630
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs104894724
rs104894724
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 30 1997 2016
dbSNP: rs104894725
rs104894725
3 0.882 0.080 19 55151851 missense variant T/C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs104894727
rs104894727
4 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2002 2016
dbSNP: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs104894858
rs104894858
2 0.925 0.160 X 120442599 missense variant C/T snv 0.700 1.000 5 2005 2009
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518933
rs1057518933
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
dbSNP: rs1057519051
rs1057519051
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs1057519819
rs1057519819
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015