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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 22 2006 2020
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.917 12 2004 2019
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.100 1.000 11 2002 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.800 10 2003 2015
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.100 0.700 10 2005 2016
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.790 1.000 10 2002 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 0.750 8 2005 2019
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.750 1.000 7 2016 2019
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.850 1.000 7 2008 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 1.000 6 2003 2015
dbSNP: rs771184127
rs771184127
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.060 1.000 6 2004 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
dbSNP: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.040 1.000 4 2006 2017
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 0.750 4 2008 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2008 2012
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2006 2013
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 1.000 4 2008 2015
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.800 1.000 3 2012 2017
dbSNP: rs12103
rs12103
3 0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56 0.800 1.000 3 2012 2017
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs12946510
rs12946510
5 0.851 0.160 17 39756124 downstream gene variant C/T snv 0.37 0.800 1.000 3 2012 2017
dbSNP: rs1363907
rs1363907
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.800 1.000 3 2012 2017
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2007 2009