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: rs747639500
rs747639500
1 1.000 0.120 17 42322402 missense variant C/A snv 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs770986654
rs770986654
1 1.000 0.120 17 42322443 missense variant T/A;C snv 4.0E-06 0.020 1.000 2 2014 2018
dbSNP: rs587777648
rs587777648
2 0.925 0.120 17 42329612 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs769031989
rs769031989
4 0.851 0.160 17 42322464 missense variant T/A snv 7.0E-06 0.010 1.000 1 2018 2018