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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 1998 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2002 2018
dbSNP: rs117106081
rs117106081
2 1.000 20 5302204 missense variant C/T snv 6.2E-03; 8.0E-06 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1421868342
rs1421868342
1 2 68655388 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1569686
rs1569686
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2008 2008
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs34715748
rs34715748
1 2 68655529 missense variant A/G snv 4.5E-02 3.2E-02 0.010 1.000 1 2013 2013