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: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 13 1987 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2003 2019
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 7 1987 2016
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 7 1987 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 2 2011 2011
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2009 2016
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 2 2009 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2019
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2019
dbSNP: rs10399681
rs10399681
1 1.000 0.040 1 158555761 upstream gene variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs10429895
rs10429895
1 1.000 0.040 1 190689509 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs10489202
rs10489202
2 0.925 0.080 1 167933841 intron variant G/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10489573
rs10489573
1 1.000 0.040 1 18358708 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs10489676
rs10489676
1 1.000 0.040 1 157650099 intergenic variant T/C snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs10493240
rs10493240
1 1.000 0.040 1 58318478 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10493241
rs10493241
1 1.000 0.040 1 58318299 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs10493249
rs10493249
1 1.000 0.040 1 58306455 intron variant G/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs10493260
rs10493260
1 1.000 0.040 1 59112910 intron variant T/C snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs10494164
rs10494164
1 1.000 0.040 1 114003906 intron variant A/G snv 6.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs10494229
rs10494229
1 1.000 0.040 1 119686494 intron variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10494504
rs10494504
1 1.000 0.040 1 177768254 intron variant A/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs10494541
rs10494541
1 1.000 0.040 1 181581329 intron variant A/G;T snv 0.700 1.000 1 2017 2017