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: rs10797432
rs10797432
2 1.000 0.040 1 2569899 downstream gene variant C/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs10798069
rs10798069
2 1.000 0.040 1 186906327 intron variant G/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs11465797
rs11465797
2 1.000 0.040 1 67200769 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11581607
rs11581607
4 0.925 0.040 1 67242007 intron variant G/A snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs12035735
rs12035735
4 1 89839786 intron variant G/A snv 1.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs1343126
rs1343126
1 1 113586470 intron variant A/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2010 2010
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs2274907
rs2274907
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2007 2007
dbSNP: rs2274910
rs2274910
6 0.827 0.200 1 160882256 non coding transcript exon variant T/C snv 0.65 0.58 0.010 1.000 1 2017 2017
dbSNP: rs2297559
rs2297559
1 1 160884736 intron variant G/A snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs2488389
rs2488389
3 0.925 0.040 1 197662011 intron variant G/A snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs2501846
rs2501846
2 1.000 0.040 1 212668592 upstream gene variant T/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs2651244
rs2651244
2 1.000 0.040 1 70529879 upstream gene variant G/A snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs3024493
rs3024493
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs3180018
rs3180018
2 1.000 0.040 1 155260340 synonymous variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs34856868
rs34856868
1 1 92088726 missense variant G/A snv 2.0E-02 2.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs34920465
rs34920465
9 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs35675666
rs35675666
2 1.000 0.040 1 7961913 5 prime UTR variant G/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs35730213
rs35730213
1 1 200905101 intron variant G/C snv 0.22 0.700 1.000 1 2015 2015