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: rs11046992
rs11046992
1 1.000 0.040 12 23584632 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11703684
rs11703684
1 1.000 0.040 22 24748945 missense variant C/G;T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs12376894
rs12376894
1 1.000 0.040 9 25268869 intergenic variant A/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs16895863
rs16895863
1 1.000 0.040 6 42603608 synonymous variant A/T snv 0.20 0.21 0.010 1.000 1 2016 2016
dbSNP: rs202007462
rs202007462
1 1.000 0.040 1 179342120 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs2232015
rs2232015
1 1.000 0.040 1 107056636 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2656927
rs2656927
1 1.000 0.040 19 4908263 intron variant C/T snv 1.0E-01 0.010 1.000 1 2019 2019
dbSNP: rs2973631
rs2973631
1 1.000 0.040 5 23528117 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs3197744
rs3197744
1 1.000 0.040 20 1937841 3 prime UTR variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs35576928
rs35576928
1 1.000 0.040 16 11281137 missense variant C/A;G snv 8.7E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs373341
rs373341
1 1.000 0.040 6 42691014 intron variant T/C;G snv 0.49; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs3749897
rs3749897
1 1.000 0.040 6 42564364 missense variant C/G;T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs3791185
rs3791185
1 1.000 0.040 1 107058247 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs508485
rs508485
1 1.000 0.040 11 94621313 3 prime UTR variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs61734716
rs61734716
1 1.000 0.040 4 86828144 missense variant G/A snv 2.3E-03 1.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs8103849
rs8103849
1 1.000 0.040 19 4909617 missense variant C/G snv 0.38 0.40 0.010 1.000 1 2019 2019
dbSNP: rs4647269
rs4647269
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.020 1.000 2 2012 2019
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: rs1042064
rs1042064
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs10835638
rs10835638
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10966811
rs10966811
2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 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: rs144944885
rs144944885
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs147894843
rs147894843
2 0.925 0.040 20 45208496 missense variant G/A snv 1.0E-04 1.3E-04 0.010 1.000 1 2016 2016
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