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: rs1181611385
rs1181611385
2 10 133394232 synonymous variant C/A;G;T snv 9.2E-06; 9.2E-06 0.020 1.000 2 2017 2017
dbSNP: rs11821102
rs11821102
2 11 35230997 3 prime UTR variant G/A snv 6.8E-02 0.020 1.000 2 2016 2016
dbSNP: rs149642280
rs149642280
2 14 103699501 missense variant C/T snv 1.0E-04; 4.0E-06 3.5E-05 0.020 < 0.001 2 2003 2006
dbSNP: rs747797219
rs747797219
2 22 28689135 missense variant C/A;G snv 4.3E-06 0.020 1.000 2 2006 2007
dbSNP: rs786203797
rs786203797
2 17 43095876 missense variant C/A;T snv 0.020 < 0.001 2 2003 2006
dbSNP: rs10035650
rs10035650
1 5 94600780 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1012049
rs1012049
2 6 128209162 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs10138053
rs10138053
1 14 51148434 intergenic variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs10160246
rs10160246
1 11 23153770 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1018379423
rs1018379423
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1027720509
rs1027720509
2 17 18340813 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1029966
rs1029966
1 16 4922962 intron variant C/T snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs1047344644
rs1047344644
2 7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10490913
rs10490913
1 10 118394924 intron variant T/C snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10505476
rs10505476
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10510776
rs10510776
1 3 55162885 downstream gene variant C/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs1056628
rs1056628
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1056663
rs1056663
3 1.000 7 47965365 synonymous variant C/T snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs1060502495
rs1060502495
2 13 32332560 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1064793328
rs1064793328
2 7 5973425 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10833965
rs10833965
1 11 23193334 intron variant A/G snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs10854373
rs10854373
1 21 34366284 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1088625
rs1088625
2 6 83646407 intron variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs11027001
rs11027001
1 11 23133679 intergenic variant T/C snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs11060845
rs11060845
2 12 130367629 intron variant G/T snv 4.8E-02 0.010 1.000 1 2011 2011