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: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.100 0.917 60 2003 2017
dbSNP: rs121913227
rs121913227
16 0.707 0.214 7 140753336 missense variant AC/CT,TT multinucleotide-polymorphism 0.060 0.833 6 2003 2015
dbSNP: rs750431822
rs750431822
7 0.878 0.107 6 32183018 stop lost A/G snp 2.4E-05 3.2E-05 0.050 1.000 5 2012 2016
dbSNP: rs121434569
rs121434569
29 0.667 0.321 7 55181378 missense variant C/T snp 2.8E-05 9.6E-05 0.040 1.000 4 2007 2016
dbSNP: rs397514495
rs397514495
22 0.707 0.286 17 7675070 missense variant C/A,T snp 1.2E-05 3.2E-05 0.030 1.000 3 1999 2014
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.030 1.000 3 2012 2014
dbSNP: rs759728549
rs759728549
26 0.679 0.214 17 7676223 stop lost T/C snp 8.0E-06 0.030 1.000 3 2010 2014
dbSNP: rs121913254
rs121913254
33 0.647 0.429 1 114713909 missense variant G/A,C,T snp 0.020 1.000 2 2014 2016
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.020 0.500 2 2014 2016
dbSNP: rs121913364
rs121913364
25 0.652 0.429 7 140753334 missense variant T/C,G snp 4.0E-06 0.020 0.500 2 2006 2016
dbSNP: rs121917887
rs121917887
4 0.923 0.071 17 51161744 missense variant A/G snp 6.0E-05 0.020 1.000 2 2001 2005
dbSNP: rs17576
rs17576
30 0.647 0.571 20 46011586 missense variant A/G snp 0.39 0.38 0.020 1.000 2 2006 2010
dbSNP: rs1799864
rs1799864
39 0.626 0.536 3 46357717 missense variant G/A snp 0.13 0.12 0.020 1.000 2 2012 2017
dbSNP: rs1801157
rs1801157
12 0.756 0.286 10 44372809 3 prime UTR variant C/T snp 0.16 0.020 1.000 2 2011 2011
dbSNP: rs20576
rs20576
20 0.679 0.321 8 23200707 missense variant T/G snp 0.15 0.14 0.020 1.000 2 2008 2013
dbSNP: rs2269772
rs2269772
4 0.923 0.071 17 50072022 synonymous variant C/T snp 0.17 0.18 0.020 1.000 2 2011 2013
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.020 1.000 2 2008 2018
dbSNP: rs71310379
rs71310379
2 1.000 0.036 3 179199003 missense variant C/A snp 4.4E-05 3.2E-05 0.020 1.000 2 2014 2016
dbSNP: rs75076352
rs75076352
RET
15 0.734 0.214 10 43114500 missense variant T/A,C,G snp 1.2E-05 0.020 1.000 2 2003 2015
dbSNP: rs757366142
rs757366142
27 0.657 0.500 3 46357714 missense variant G/A snp 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs763059810
rs763059810
20 0.707 0.464 2 136115750 missense variant T/C snp 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.020 1.000 2 2009 2018
dbSNP: rs931127
rs931127
8 0.784 0.143 11 65637829 intergenic variant G/A snp 0.51 0.020 1.000 2 2010 2013
dbSNP: rs1047781
rs1047781
10 0.769 0.179 19 48703374 missense variant A/T snp 3.6E-02 2.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs104894228
rs104894228
26 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012