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: rs2571445
rs2571445
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.800 1.000 5 2010 2019
dbSNP: rs11001819
rs11001819
4 10 76555466 intron variant G/A snv 0.41 0.800 1.000 3 2011 2015
dbSNP: rs12477314
rs12477314
4 2 238955452 regulatory region variant C/G;T snv 0.800 1.000 2 2011 2012
dbSNP: rs1529672
rs1529672
6 1.000 0.040 3 25479091 intron variant C/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs1980057
rs1980057
6 1.000 0.040 4 144564586 intron variant C/T snv 0.31 0.800 1.000 2 2012 2015
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.800 1.000 2 2012 2019
dbSNP: rs2798641
rs2798641
5 6 108946847 intron variant C/T snv 0.15 0.800 1.000 2 2012 2019
dbSNP: rs2857595
rs2857595
9 0.827 0.320 6 31600692 intergenic variant G/A snv 0.27 0.800 1.000 2 2011 2012
dbSNP: rs2869967
rs2869967
11 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.800 1.000 2 2012 2015
dbSNP: rs7068966
rs7068966
5 1.000 0.040 10 12235993 intron variant C/T snv 0.43 0.800 1.000 2 2011 2012
dbSNP: rs8040868
rs8040868
17 0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 0.800 1.000 2 2012 2015
dbSNP: rs8089099
rs8089099
3 18 10078074 regulatory region variant G/A snv 0.22 0.800 1.000 2 2012 2019
dbSNP: rs11654749
rs11654749
2 17 71129465 intron variant G/T snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs12716850
rs12716850
2 16 78154006 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs13290997
rs13290997
2 9 116551938 intron variant A/G snv 0.58 0.800 1.000 1 2012 2012
dbSNP: rs17331332
rs17331332
4 4 105886950 intron variant G/A snv 4.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs3003429
rs3003429
2 1 17265184 intron variant T/C snv 3.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs3734729
rs3734729
2 6 150249731 3 prime UTR variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs8056446
rs8056446
2 16 78154599 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs34712979
rs34712979
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 3 2015 2019
dbSNP: rs1032296
rs1032296
2 4 144513536 intron variant T/C snv 0.68 0.700 1.000 2 2015 2015
dbSNP: rs10516526
rs10516526
4 4 105767747 intron variant A/G snv 5.4E-02 0.700 1.000 2 2010 2017
dbSNP: rs10850377
rs10850377
2 12 114763631 intron variant G/A;C snv 0.700 1.000 2 2015 2019
dbSNP: rs11704827
rs11704827
1 22 17967521 intron variant A/T snv 0.20 0.700 1.000 2 2015 2017
dbSNP: rs12698403
rs12698403
3 7 156334552 intergenic variant G/A snv 0.40 0.700 1.000 2 2017 2019