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: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs733618
rs733618
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs114577328
rs114577328
2 1.000 0.080 6 29959505 downstream gene variant G/C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.030 1.000 3 2013 2017
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2010 2010
dbSNP: rs10946737
rs10946737
1 6 24967012 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs17036170
rs17036170
2 1.000 0.080 3 12288912 5 prime UTR variant G/A snv 1.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs1041983
rs1041983
15 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 0.010 1.000 1 2017 2017
dbSNP: rs138642043
rs138642043
1 2 168964291 missense variant C/T snv 3.4E-03 4.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs2741045
rs2741045
4 2 233671494 intron variant C/T snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1214110864
rs1214110864
2 1.000 0.040 7 87408071 missense variant A/T snv 0.010 1.000 1 2007 2007
dbSNP: rs80292941
rs80292941
2 1.000 0.040 2 87480257 non coding transcript exon variant A/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs2306283
rs2306283
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 < 0.001 1 2019 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs116561224
rs116561224
2 1.000 0.080 18 66962261 intergenic variant A/G snv 7.4E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019
dbSNP: rs3135388
rs3135388
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2010 2010
dbSNP: rs72631567
rs72631567
2 1.000 0.080 2 5092045 intergenic variant A/G snv 4.5E-02 0.010 1.000 1 2017 2017