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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2011 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2008 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2008 2020
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2014 2014
dbSNP: rs138060
rs138060
1 1.000 0.040 22 43826927 intron variant A/C snv 0.49 0.010 1.000 1 2008 2008
dbSNP: rs138097
rs138097
2 0.925 0.040 22 43854690 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2014 2014
dbSNP: rs17689918
rs17689918
6 0.851 0.080 17 45832722 intron variant G/A snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2004 2004
dbSNP: rs2478813
rs2478813
4 0.882 0.080 1 208073865 intron variant A/G snv 0.85 0.010 1.000 1 2007 2007
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2018 2018
dbSNP: rs716461
rs716461
2 0.925 0.040 1 208084284 intron variant G/A snv 0.23 0.010 1.000 1 2007 2007