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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs4833095
rs4833095
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2012 2012
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2012 2012
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.030 1.000 3 2009 2011
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.010 1.000 1 2011 2011
dbSNP: rs775910328
rs775910328
3 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1196547982
rs1196547982
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs41292470
rs41292470
3 0.925 0.200 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2012 2012
dbSNP: rs748327912
rs748327912
1 1.000 0.080 12 10125310 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs8028958
rs8028958
1 1.000 0.080 15 41863503 intron variant G/C;T snv 0.710 1.000 1 2019 2019