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: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.100 0.909 11 2008 2019
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.070 1.000 7 2007 2019
dbSNP: rs2470893
rs2470893
8 0.882 0.160 15 74727108 upstream gene variant C/T snv 0.20 0.030 1.000 3 2012 2016
dbSNP: rs2472297
rs2472297
9 0.882 0.160 15 74735539 intergenic variant C/T snv 0.16 0.030 1.000 3 2012 2017
dbSNP: rs4410790
rs4410790
9 0.882 0.160 7 17244953 intron variant T/C snv 0.54 0.030 1.000 3 2012 2017
dbSNP: rs118192178
rs118192178
4 0.882 0.120 19 38500898 missense variant C/G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs4998386
rs4998386
2 1.000 0.040 16 9976688 intron variant C/T snv 0.11 0.020 0.500 2 2014 2018
dbSNP: rs6968865
rs6968865
1 7 17247645 5 prime UTR variant A/T snv 0.54 0.020 1.000 2 2012 2016
dbSNP: rs10252701
rs10252701
1 7 17240889 intron variant A/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs10772420
rs10772420
1 12 11021677 missense variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11724635
rs11724635
3 0.925 0.080 4 15735478 intron variant C/A;G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs118192161
rs118192161
5 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs118192162
rs118192162
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs118192164
rs118192164
3 0.925 0.080 19 38525455 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs118192170
rs118192170
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs118192172
rs118192172
5 0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04 0.010 1.000 1 1996 1996
dbSNP: rs118192176
rs118192176
4 0.882 0.120 19 38494579 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs118192177
rs118192177
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918592
rs121918592
4 0.882 0.080 19 38448712 missense variant G/A;C snv 0.010 1.000 1 2002 2002
dbSNP: rs121918593
rs121918593
3 0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs121918600
rs121918600
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1255998
rs1255998
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1350882940
rs1350882940
2 1.000 0.040 8 86507057 missense variant T/A snv 1.4E-05 0.010 < 0.001 1 2018 2018