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: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs775129479
rs775129479
6 0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1470543813
rs1470543813
2 0.925 0.120 16 1792093 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017