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: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019
dbSNP: rs1611131
rs1611131
3 0.925 0.080 9 133657065 splice region variant A/G snv 0.28; 4.0E-06 0.25 0.010 1.000 1 2018 2018
dbSNP: rs2070762
rs2070762
TH
5 0.925 0.080 11 2165105 intron variant A/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs230530
rs230530
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs382140
rs382140
1 7 108141755 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs604300
rs604300
3 1.000 0.080 3 127724009 intron variant A/G snv 0.91 0.010 1.000 1 2015 2015
dbSNP: rs75012854
rs75012854
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs774847933
rs774847933
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs796065354
rs796065354
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.050 1.000 5 2004 2020
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs764987358
rs764987358
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs3495
rs3495
3 0.925 0.160 3 165773193 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs751416416
rs751416416
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs17664708
rs17664708
2 1.000 0.080 8 32579499 intron variant C/T snv 1.0E-01 0.010 1.000 1 2012 2012
dbSNP: rs1803274
rs1803274
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2020 2020