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: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.070 1.000 7 1996 2003
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 1.000 4 2001 2002
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2001 2002
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.020 1.000 2 2003 2008
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2004 2004
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2005 2005
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2006 2006
dbSNP: rs4757268
rs4757268
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003
dbSNP: rs561005732
rs561005732
2 0.925 0.040 22 24627519 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs6720173
rs6720173
5 0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 0.010 1.000 1 2004 2004
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2016 2016
dbSNP: rs75326924
rs75326924
4 0.882 0.120 7 80656687 missense variant C/T snv 1.1E-03 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 1.000 1 2005 2005