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: rs28942074
rs28942074
4 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.020 1.000 2 2019 2020
dbSNP: rs1135840
rs1135840
8 0.807 0.200 22 42126611 missense variant C/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
dbSNP: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs58573614
rs58573614
1 1.000 0.040 12 52897580 missense variant C/T snv 4.3E-03 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs57422427
rs57422427
2 0.925 0.080 12 52898859 missense variant C/T snv 3.5E-02 2.3E-02 0.020 1.000 2 2010 2015
dbSNP: rs62636489
rs62636489
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1474868
rs1474868
1 1.000 0.040 1 11984107 intron variant C/T snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2236055
rs2236055
1 1.000 0.040 1 11982204 intron variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4846085
rs4846085
1 1.000 0.040 1 11990577 intron variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs873457
rs873457
1 1.000 0.040 1 11986277 intron variant C/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs369698072
rs369698072
2 0.925 0.040 2 15238670 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs886037843
rs886037843
3 0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.710 1.000 41 2001 2018
dbSNP: rs1562849964
rs1562849964
2 0.925 0.160 7 105550262 missense variant T/C snv 0.700 0
dbSNP: rs1554967681
rs1554967681
3 0.925 0.040 11 65525631 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1554967761
rs1554967761
2 1.000 0.040 11 65525924 stop gained G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1554969925
rs1554969925
3 0.925 0.040 11 65535999 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1554970375
rs1554970375
3 0.925 0.040 11 65537051 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs942522644
rs942522644
3 0.925 0.040 11 65525982 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs8330
rs8330
3 1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72 0.010 1.000 1 2013 2013