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: rs28939668
rs28939668
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs2228638
rs2228638
3 1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 0.820 1.000 3 2013 2018
dbSNP: rs115099192
rs115099192
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.810 1.000 1 2010 2010
dbSNP: rs28936670
rs28936670
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.810 1.000 1 2008 2008
dbSNP: rs104893905
rs104893905
2 0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06 0.800 1.000 3 1999 2003
dbSNP: rs769531968
rs769531968
2 0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2001 2010
dbSNP: rs11065987
rs11065987
17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs121434424
rs121434424
1 1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04 0.800 1.000 1 2007 2007
dbSNP: rs2388896
rs2388896
1 1.000 0.080 10 8912261 intron variant A/G snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs6499100
rs6499100
1 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs7982677
rs7982677
1 1.000 0.080 13 92336070 intron variant C/A snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs187043152
rs187043152
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.800 0
dbSNP: rs387906816
rs387906816
4 0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04 0.720 1.000 3 2010 2014
dbSNP: rs11066320
rs11066320
5 0.925 0.120 12 112468611 intron variant A/G snv 0.70 0.710 1.000 2 2012 2013
dbSNP: rs387906769
rs387906769
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.710 1.000 1 2010 2010
dbSNP: rs387906818
rs387906818
3 0.882 0.120 18 22181516 missense variant C/T snv 0.710 1.000 1 2014 2014
dbSNP: rs56208331
rs56208331
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.710 1.000 1 2009 2009
dbSNP: rs104893902
rs104893902
2 0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06 0.700 1.000 3 1999 2003
dbSNP: rs104893904
rs104893904
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.700 1.000 3 1999 2003
dbSNP: rs1057515420
rs1057515420
1 1.000 0.080 7 100819874 missense variant G/A snv 0.700 1.000 2 2009 2016
dbSNP: rs121908601
rs121908601
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.700 1.000 2 2003 2011
dbSNP: rs387906814
rs387906814
1 1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04 0.700 1.000 2 2010 2010
dbSNP: rs774966208
rs774966208
1 1.000 0.080 9 136523014 missense variant C/G;T snv 0.700 1.000 2 2009 2016
dbSNP: rs11066188
rs11066188
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2013 2013
dbSNP: rs1114167357
rs1114167357
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017