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: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2008 2018
dbSNP: rs45437897
rs45437897
1 1.000 0.080 20 46011590 synonymous variant C/T snv 2.0E-03 8.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs79845319
rs79845319
1 1.000 0.080 20 46010332 intron variant A/C;T snv 2.6E-02 0.010 1.000 1 2018 2018