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: rs27432
rs27432
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs26653
rs26653
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs27524
rs27524
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987
3 0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018