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: rs10812227
rs10812227
2 1.000 0.080 9 2548556 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1106076
rs1106076
2 1.000 0.080 7 5581212 regulatory region variant C/A;G snv 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: rs12305135
rs12305135
2 1.000 0.080 12 130150660 non coding transcript exon variant T/C snv 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs17645023
rs17645023
3 1.000 0.040 17 66920916 intergenic variant A/T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs2074898
rs2074898
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3811939
rs3811939
2 1.000 0.080 5 76954762 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs3915512
rs3915512
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs4680612
rs4680612
2 1.000 0.040 3 165891643 intergenic variant G/A snv 0.95 0.010 1.000 1 2013 2013
dbSNP: rs4949526
rs4949526
3 1.000 0.040 1 29959372 intergenic variant T/C snv 0.54 0.800 1.000 1 2010 2010
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs12201676
rs12201676
4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17746001
rs17746001
4 0.925 0.040 4 179734472 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs2054399
rs2054399
4 0.925 0.040 3 178623794 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2070106
rs2070106
CNP
4 0.925 0.160 17 41973846 synonymous variant G/A snv 0.31 0.25 0.010 1.000 1 2012 2012
dbSNP: rs4356203
rs4356203
4 0.925 0.040 11 17138601 intron variant A/G snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs4916723
rs4916723
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs7219021
rs7219021
4 0.925 0.040 17 48763179 intron variant T/G snv 0.26 0.700 1.000 1 2014 2014