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: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs553040076
rs553040076
3 0.925 0.080 19 10417700 missense variant T/A snv 4.5E-05 7.7E-05 0.010 1.000 1 2007 2007
dbSNP: rs156243
rs156243
6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.020 1.000 2 2016 2018
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2016 2019
dbSNP: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2013 2013
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2008 2008
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2019 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 1.000 3 2012 2018
dbSNP: rs10223646
rs10223646
DSE
4 0.882 0.080 6 116296236 intron variant C/T snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs3782218
rs3782218
5 0.882 0.120 12 117333706 intron variant C/T snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015