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: rs7811142
rs7811142
1 7 100467820 synonymous variant A/C;T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs7149242
rs7149242
1 14 100693079 intergenic variant T/G snv 0.62 0.800 1.000 1 2011 2011
dbSNP: rs9635298
rs9635298
1 14 100706205 regulatory region variant C/T snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs1555405
rs1555405
2 14 100710432 regulatory region variant G/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs72635188
rs72635188
1 14 102319464 5 prime UTR variant G/T snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs1190545
rs1190545
1 14 102437842 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11628318
rs11628318
1 14 102573750 regulatory region variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs10132160
rs10132160
1 14 102591686 upstream gene variant A/G snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs11382616
rs11382616
1 14 102615129 intron variant C/-;CC;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016
dbSNP: rs2297067
rs2297067
2 1.000 0.080 14 103100448 missense variant C/T snv 0.22 0.20 0.800 1.000 1 2011 2011
dbSNP: rs944002
rs944002
3 14 103106478 intron variant A/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs4846217
rs4846217
1 1 10391742 upstream gene variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs4699154
rs4699154
2 4 105112927 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2816648
rs2816648
1 14 105241952 5 prime UTR variant C/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs112790992
rs112790992
1 14 105291880 intron variant A/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2343592
rs2343592
1 8 105560042 intron variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs6993770
rs6993770
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.800 1.000 4 2011 2019
dbSNP: rs553314025
rs553314025
1 19 10576094 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs2360742
rs2360742
1 19 10629898 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs342213
rs342213
1 7 106684166 intron variant G/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs342275
rs342275
1 7 106718770 intron variant C/T snv 0.33 0.800 1.000 2 2011 2019
dbSNP: rs67036916
rs67036916
1 7 106727190 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs342292
rs342292
1 7 106730198 intron variant C/G snv 0.40 0.700 1.000 1 2016 2016