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: 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: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2000 2000
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2001 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2001 2001
dbSNP: rs200673075
rs200673075
2 0.925 0.040 5 150407152 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 0.846 13 2002 2018
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.100 0.900 10 2002 2015
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.040 0.750 4 2002 2014
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.850 20 2003 2018
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.800 0.923 13 2004 2017
dbSNP: rs771184127
rs771184127
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.050 1.000 5 2004 2017
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 0.667 3 2004 2009
dbSNP: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs1922242
rs1922242
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2004 2004
dbSNP: rs2235035
rs2235035
2 0.925 0.040 7 87549770 intron variant G/A snv 0.29 0.010 1.000 1 2004 2004
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2018
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 1.000 8 2005 2017
dbSNP: rs1292975971
rs1292975971
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs369957746
rs369957746
1 1.000 0.040 16 50711892 missense variant G/C snv 8.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs5743278
rs5743278
3 0.882 0.080 16 50712085 missense variant C/G snv 3.2E-03 1.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.040 0.750 4 2006 2016
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2006 2007
dbSNP: rs104895486
rs104895486
2 0.925 0.040 16 50716670 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2006 2006