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: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.740 1.000 5 2013 2017
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.080 1.000 8 2013 2018
dbSNP: rs1553260624
rs1553260624
14 0.763 0.080 1 226064454 missense variant G/A snv 0.040 1.000 4 2013 2017