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: rs11239550
rs11239550
3 10 45529281 intron variant A/G snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs12718597
rs12718597
2 7 50360730 intron variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs131794
rs131794
2 22 50533323 upstream gene variant A/C;G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs1408272
rs1408272
4 6 25842723 intron variant T/G snv 4.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs2540917
rs2540917
3 2 60381624 intron variant T/C snv 0.29 0.800 1.000 1 2009 2009
dbSNP: rs4466998
rs4466998
2 14 65008822 intron variant C/A;G snv 0.800 1.000 1 2009 2009
dbSNP: rs7189020
rs7189020
2 16 254804 intron variant A/T snv 0.55 0.800 1.000 1 2009 2009
dbSNP: rs7786877
rs7786877
3 7 100616392 downstream gene variant A/G snv 0.22 0.800 1.000 1 2009 2009
dbSNP: rs9609565
rs9609565
3 22 32471541 upstream gene variant G/A snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs172629
rs172629
2 4 54541595 intergenic variant C/G snv 0.17 0.800 1.000 2 2009 2010
dbSNP: rs11204538
rs11204538
1 1 247882970 downstream gene variant C/T snv 0.55 0.700 1.000 1 2010 2010
dbSNP: rs11966072
rs11966072
4 6 109313625 intron variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs2279434
rs2279434
4 10 45459616 intron variant C/T snv 7.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs4821112
rs4821112
4 22 21610472 intron variant G/A snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs4916483
rs4916483
4 3 196180782 intergenic variant T/C snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs6092477
rs6092477
2 20 57416639 regulatory region variant G/A snv 0.36 0.700 1.000 1 2010 2010
dbSNP: rs7085433
rs7085433
4 1.000 0.040 10 46002468 intron variant C/T snv 9.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 4 2009 2012
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 2 2009 2012
dbSNP: rs4895441
rs4895441
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.800 1.000 2 2009 2012
dbSNP: rs632057
rs632057
5 6 139512875 intron variant T/G snv 0.57 0.800 1.000 2 2010 2012
dbSNP: rs6569992
rs6569992
4 6 135131014 intergenic variant G/A;C;T snv 0.800 1.000 2 2010 2012
dbSNP: rs9494145
rs9494145
11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.800 1.000 2 2010 2012
dbSNP: rs10207392
rs10207392
2 2 111092082 intron variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10947997
rs10947997
4 6 41953503 intron variant G/T snv 0.13 0.700 1.000 1 2012 2012