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: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs12097821
rs12097821
4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs6080550
rs6080550
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs10129954
rs10129954
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs10269148
rs10269148
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1059060
rs1059060
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11204546
rs11204546
3 0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11531577
rs11531577
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs11677854
rs11677854
1 1.000 0.040 2 48664148 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1203334353
rs1203334353
1 1.000 0.040 20 32795683 missense variant G/A snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121918346
rs121918346
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs12348
rs12348
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs1248142939
rs1248142939
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1335054067
rs1335054067
1 1.000 0.040 X 30308211 missense variant C/A snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs140506267
rs140506267
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs140756663
rs140756663
2 0.925 0.040 6 116278733 missense variant G/T snv 3.6E-03 2.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs150771661
rs150771661
1 1.000 0.040 11 125911413 missense variant G/A snv 1.7E-04 9.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs17420802
rs17420802
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs175080
rs175080
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2007 2007