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: rs771797724
rs771797724
1 1.000 0.040 10 14908688 missense variant T/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs2243158
rs2243158
2 0.925 0.120 1 206834296 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2243169
rs2243169
1 1.000 0.040 1 206836189 intron variant A/G snv 4.5E-02 0.010 1.000 1 2004 2004
dbSNP: rs2243188
rs2243188
4 0.851 0.200 1 206841127 intron variant A/C;T snv 0.69 0.010 1.000 1 2004 2004
dbSNP: rs734232
rs734232
1 1.000 0.040 17 74769592 downstream gene variant G/A snv 0.34 0.010 < 0.001 1 2005 2005
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 2 2006 2016
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.100 0.818 11 2007 2018
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.100 0.900 10 2007 2018
dbSNP: rs3134792
rs3134792
4 0.851 0.280 6 31344549 intron variant T/G snv 8.8E-02 0.800 1.000 2 2007 2008
dbSNP: rs1805005
rs1805005
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs757286802
rs757286802
1 1.000 0.040 8 26864276 missense variant C/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs885479
rs885479
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs984473166
rs984473166
1 1.000 0.040 20 23035661 missense variant G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.857 14 2008 2018
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 10 2008 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
dbSNP: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.810 1.000 4 2008 2018
dbSNP: rs495337
rs495337
2 0.925 0.120 20 49905793 synonymous variant G/A snv 0.44 0.35 0.810 1.000 4 2008 2015
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.040 1.000 4 2008 2014
dbSNP: rs2395029
rs2395029
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.820 1.000 2 2008 2014
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.020 0.500 2 2008 2012
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2008 2011
dbSNP: rs1002212321
rs1002212321
1 1.000 0.040 8 103931366 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs11584340
rs11584340
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.010 1.000 1 2008 2008