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: rs1060503118
rs1060503118
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1450081432
rs1450081432
4 0.851 0.120 7 5987230 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs587782513
rs587782513
2 0.925 0.080 7 5992023 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs762100304
rs762100304
2 0.925 0.080 7 5987005 missense variant C/A;T snv 0.010 1.000 1 2015 2015