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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2016
dbSNP: rs9268877
rs9268877
5 0.827 0.200 6 32463370 intron variant A/G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs1980493
rs1980493
10 0.776 0.400 6 32395438 intron variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs201258663
rs201258663
6 0.807 0.320 6 41161457 missense variant G/A snv 5.6E-05 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs2234253
rs2234253
5 0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs2234256
rs2234256
3 0.882 0.120 6 41158917 missense variant A/G snv 1.8E-02 4.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs753325601
rs753325601
4 0.851 0.200 6 41161515 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9268856
rs9268856
6 0.807 0.240 6 32461942 intron variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.030 1.000 3 2013 2017
dbSNP: rs142444896
rs142444896
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs149119842
rs149119842
3 0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1595014
rs1595014
3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs6962939
rs6962939
1 1.000 0.120 7 7484595 intron variant T/A snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs746478952
rs746478952
1 1.000 0.120 7 128842895 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs747105516
rs747105516
5 0.851 0.120 7 56015139 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7791726
rs7791726
1 1.000 0.120 7 12243703 downstream gene variant G/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs964520949
rs964520949
2 0.925 0.120 7 56019715 missense variant C/T snv 2.2E-04; 4.0E-06 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs10101195
rs10101195
1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs12546767
rs12546767
2 0.925 0.120 8 125070323 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2732260
rs2732260
5 0.882 0.200 8 33431749 intron variant G/A snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs36196656
rs36196656
1 1.000 0.120 8 21763735 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs377163259
rs377163259
1 1.000 0.120 8 104244975 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs758576072
rs758576072
4 0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019