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: rs2720709
rs2720709
3 0.882 0.160 8 128046110 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1309566180
rs1309566180
1 1.000 0.080 9 21971170 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs373638524
rs373638524
1 1.000 0.080 16 369987 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs771828986
rs771828986
1 1.000 0.080 20 5118856 missense variant T/C snv 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs201496274
rs201496274
1 1.000 0.080 17 7631212 missense variant A/G snv 0.010 1.000 1 1998 1998