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: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs745826707
rs745826707
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2012
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 1.000 3 2009 2014
dbSNP: rs2292399
rs2292399
1 1.000 8 49074671 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs2903692
rs2903692
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs689
rs689
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.010 1.000 1 2009 2009
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2009 2009
dbSNP: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2010 2010
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1267634673
rs1267634673
2 0.925 0.040 3 24127628 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs17593222
rs17593222
3 0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs6479778
rs6479778
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs3788013
rs3788013
5 0.851 0.240 21 42421219 intron variant C/A snv 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs661561
rs661561
3 0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs17445836
rs17445836
5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2280381
rs2280381
3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016