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: rs516246
rs516246
10 0.925 0.160 19 48702915 intron variant C/T snv 0.38 0.45 0.800 1.000 3 2012 2017
dbSNP: rs504963
rs504963
1 1.000 0.040 19 48705608 3 prime UTR variant G/A snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs602662
rs602662
16 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.710 1.000 2 2010 2015
dbSNP: rs679574
rs679574
7 0.827 0.120 19 48702851 intron variant C/G snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.020 1.000 2 2014 2020
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 1.000 2 2012 2019