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: rs1960264
rs1960264
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
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: rs3930965
rs3930965
2 1.000 0.040 10 4971951 intron variant G/A;C snv 0.010 1.000 1 2014 2014
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: 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
dbSNP: rs683250
rs683250
2 1.000 0.040 11 83565125 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs757281
rs757281
2 1.000 0.040 12 47748635 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs8192506
rs8192506
DBI
2 1.000 0.040 2 119372265 missense variant A/C;G snv 4.0E-06; 2.5E-02 0.010 1.000 1 2007 2007
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: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs10801153
rs10801153
3 0.925 0.080 1 192794818 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
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: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
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: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
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: rs2910931
rs2910931
3 0.925 0.080 5 32394809 intron variant T/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs3741775
rs3741775
DAO
3 0.925 0.080 12 108889827 intron variant A/C;G snv 0.010 1.000 1 2011 2011