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: rs1801262
rs1801262
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.090 0.778 9 1999 2005
dbSNP: rs478582
rs478582
1 1.000 0.120 18 12835977 intron variant T/C snv 0.35 0.040 1.000 4 2011 2019
dbSNP: rs1015166
rs1015166
2 0.925 0.120 6 32830954 intron variant C/G;T snv 0.28 0.800 1.000 2 2007 2015
dbSNP: rs1445898
rs1445898
1 1.000 0.120 5 35910427 missense variant C/T snv 0.51 0.42 0.020 1.000 2 2008 2014
dbSNP: rs3135002
rs3135002
2 1.000 0.120 6 32700662 TF binding site variant A/C snv 0.80 0.720 0.500 2 2018 2020
dbSNP: rs35744605
rs35744605
2 1.000 0.120 2 162277580 stop gained C/A;G;T snv 3.2E-03; 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs370443546
rs370443546
1 1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05 0.020 1.000 2 2006 2007
dbSNP: rs559047
rs559047
2 1.000 0.120 1 238590616 intergenic variant T/A;C snv 0.720 0.500 2 2018 2020
dbSNP: rs5742913
rs5742913
2 1.000 0.120 5 134115992 missense variant C/A;G;T snv 8.4E-02; 2.0E-05; 1.2E-05 0.020 1.000 2 2009 2009
dbSNP: rs7111341
rs7111341
2 0.925 0.120 11 2191936 regulatory region variant C/T snv 0.29 0.800 1.000 2 2007 2009
dbSNP: rs757518063
rs757518063
1 1.000 0.120 2 202210797 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.020 1.000 2 2011 2012
dbSNP: rs8192556
rs8192556
2 0.925 0.120 2 181678271 missense variant G/T snv 1.9E-02 1.6E-02 0.020 0.500 2 2000 2003
dbSNP: rs9260151
rs9260151
2 1.000 0.120 6 29943253 non coding transcript exon variant C/T snv 0.16 0.14 0.720 0.500 2 2018 2020
dbSNP: rs941576
rs941576
1 1.000 0.120 14 100839708 intron variant A/G snv 0.45 0.820 1.000 2 2010 2015
dbSNP: rs9585056
rs9585056
1 1.000 0.120 13 99429512 non coding transcript exon variant C/G;T snv 0.710 1.000 2 2010 2015
dbSNP: rs10011025
rs10011025
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1012411
rs1012411
1 1.000 0.120 6 30364778 upstream gene variant T/G snv 0.32 0.700 1.000 1 2007 2007
dbSNP: rs10186193
rs10186193
1 1.000 0.120 2 3550384 synonymous variant T/C snv 0.33 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1023934247
rs1023934247
1 1.000 0.120 10 70598292 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs10255021
rs10255021
1 1.000 0.120 7 94402493 intron variant G/A snv 0.13 0.700 1.000 1 2007 2007
dbSNP: rs10277986
rs10277986
1 1.000 0.120 7 50961290 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10492166
rs10492166
1 1.000 0.120 12 9733403 upstream gene variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1053924
rs1053924
1 1.000 0.120 6 32152938 non coding transcript exon variant T/C snv 0.71 0.700 1.000 1 2007 2007
dbSNP: rs1055271
rs1055271
1 1.000 0.120 22 50489911 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1058026
rs1058026
5 0.925 0.120 6 31353908 3 prime UTR variant A/C snv 0.21 0.700 1.000 1 2007 2007