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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 1.000 2 2006 2014
dbSNP: rs1262930152
rs1262930152
1 1 31577384 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs750891770
rs750891770
1 1 31583538 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs1800759
rs1800759
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.010 1.000 1 2006 2006
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.060 1.000 6 2005 2018
dbSNP: rs1042363
rs1042363
4 0.882 0.080 6 151356693 3 prime UTR variant T/C snv 0.020 1.000 2 2005 2006
dbSNP: rs199953844
rs199953844
2 6 154039650 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs3735451
rs3735451
1 7 99758352 intron variant T/C snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs4646440
rs4646440
2 7 99763247 intron variant G/A snv 5.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2010 2013
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2008 2008
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs10784339
rs10784339
1 12 63144866 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs441
rs441
4 0.882 0.200 12 111791045 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs4646778
rs4646778
1 12 111797979 intron variant C/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017