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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.030 1.000 3 2004 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2014 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2014 2017
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2017 2017
dbSNP: rs56164415
rs56164415
6 0.851 0.120 11 27700188 5 prime UTR variant G/A snv 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs7136446
rs7136446
8 0.882 0.160 12 102444737 intron variant C/T snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs78029637
rs78029637
2 1.000 12 40340436 missense variant A/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2019 2019