Source: ALL
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: rs72520913
rs72520913
1 11 102845217 upstream gene variant -/C;G ins 0.010 1.000 1 2013 2013
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1277774683
rs1277774683
1 19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs398655
rs398655
1 13 33013514 upstream gene variant A/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4660928
rs4660928
1 1 46420268 TF binding site variant A/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs3766246
rs3766246
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs773030005
rs773030005
2 1.000 0.040 4 69107204 synonymous variant A/C;G snv 4.0E-06; 6.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs540825
rs540825
1 6 154093311 missense variant A/C;T snv 2.8E-05; 0.81 0.010 1.000 1 2016 2016
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.979 47 2004 2019
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.040 1.000 4 2010 2018
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.030 1.000 3 2014 2019
dbSNP: rs11898284
rs11898284
1 2 166325017 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs13093031
rs13093031
2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1536309
rs1536309
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1571138
rs1571138
1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1834306
rs1834306
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016