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: rs9892152
rs9892152
1 1.000 0.040 17 64324605 intron variant T/C snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs12953
rs12953
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.020 1.000 2 2004 2005
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.020 1.000 2 2004 2005