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: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs35018800
rs35018800
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2015 2015
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2015 2015