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: rs1709393
rs1709393
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 2 2016 2019
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.020 1.000 2 2009 2014
dbSNP: rs11030107
rs11030107
2 1.000 0.040 11 27673288 intron variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1132358
rs1132358
3 1.000 0.040 16 1347814 synonymous variant C/T snv 0.44 0.39 0.010 1.000 1 2013 2013
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1960264
rs1960264
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2235632
rs2235632
3 1.000 0.040 16 1343019 splice region variant G/A snv 0.46 0.42 0.010 1.000 1 2013 2013
dbSNP: rs2463107
rs2463107
2 1.000 0.040 12 79699537 intron variant A/C snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2572431
rs2572431
2 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2941026
rs2941026
2 1.000 0.040 11 6261042 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2973050
rs2973050
2 1.000 0.040 5 37817242 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs34548976
rs34548976
2 1.000 0.040 7 31032854 intergenic variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs3761422
rs3761422
4 1.000 0.040 22 24430704 intron variant T/C snv 0.62 0.010 < 0.001 1 2010 2010
dbSNP: rs3812047
rs3812047
3 1.000 0.040 5 37835296 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3930965
rs3930965
2 1.000 0.040 10 4971951 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4245146
rs4245146
3 1.000 0.040 11 113447251 intron variant T/C snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs4813627
rs4813627
2 1.000 0.040 20 3074867 downstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4822492
rs4822492
4 1.000 0.040 22 24447626 intron variant C/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs56242606
rs56242606
2 1.000 0.040 7 12382283 intron variant T/C snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs61910731
rs61910731
2 1.000 0.040 22 19963574 missense variant G/A;C;T snv 2.4E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6470292
rs6470292
2 1.000 0.040 8 124855801 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019