Source: ALL
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: rs17595731
rs17595731
2 0.925 0.080 18 55440221 intron variant G/C snv 6.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs2292245
rs2292245
2 0.925 0.080 3 62203515 missense variant G/A snv 0.19 0.16 0.010 1.000 1 2014 2014
dbSNP: rs613827
rs613827
1 1.000 5 111932760 intron variant C/T snv 2.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs7640737
rs7640737
2 0.925 0.080 3 62047679 intron variant C/T snv 0.12 0.010 1.000 1 2014 2014