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: rs79246196
rs79246196
4 0.925 0.080 7 100185286 intron variant C/T snv 1.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17792983
rs17792983
1 1.000 0.040 6 100363657 regulatory region variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs13122395
rs13122395
2 1.000 0.040 4 100829496 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs7758630
rs7758630
1 1.000 0.040 6 100939428 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs6092
rs6092
6 0.807 0.200 7 101128436 missense variant G/A snv 9.5E-02 8.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs6090
rs6090
1 1.000 0.040 7 101128442 missense variant G/A snv 2.9E-02 3.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs2227684
rs2227684
1 1.000 0.040 7 101133650 intron variant G/A;T snv 0.41 0.010 1.000 1 2008 2008
dbSNP: rs7242
rs7242
1 1.000 0.040 7 101138164 3 prime UTR variant T/G snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs1722229
rs1722229
2 1.000 0.040 7 101642897 intergenic variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs12544026
rs12544026
4 0.925 0.080 8 101819970 intron variant G/A snv 0.85 0.700 1.000 1 2017 2017
dbSNP: rs146486358
rs146486358
3 0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 0.020 1.000 2 2011 2015
dbSNP: rs6878284
rs6878284
2 0.925 0.040 5 102434022 intron variant C/T snv 0.64 0.010 < 0.001 1 2016 2016
dbSNP: rs7734060
rs7734060
2 0.925 0.040 5 102444775 intron variant T/G snv 0.19 0.010 < 0.001 1 2016 2016
dbSNP: rs11191454
rs11191454
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs7914558
rs7914558
5 0.851 0.040 10 103016151 intron variant G/A snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs3787283
rs3787283
3 0.882 0.040 20 10303770 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs117911063
rs117911063
1 1.000 0.040 14 103037856 intron variant C/A;T snv 2.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1304150
rs1304150
1 1.000 0.040 3 103112741 regulatory region variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11191580
rs11191580
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs1961982
rs1961982
2 0.925 0.040 12 103218955 intergenic variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs188843168
rs188843168
3 0.925 0.040 10 103390184 intron variant T/A;C snv 4.3E-04 0.700 1.000 1 2016 2016