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: rs397516981
rs397516981
1 1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins 0.700 1.000 5 2005 2012
dbSNP: rs397516980
rs397516980
1 1.000 0.080 17 39724744 protein altering variant G/TTAT delins 0.700 1.000 3 2005 2006
dbSNP: rs397516982
rs397516982
1 1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins 0.700 1.000 3 2004 2012
dbSNP: rs397517112
rs397517112
1 1.000 0.080 7 55181320 protein altering variant -/ACC delins 0.700 1.000 3 2005 2011
dbSNP: rs984755949
rs984755949
1 1.000 0.080 6 33172302 missense variant A/C snv 0.030 1.000 3 2011 2018
dbSNP: rs121913420
rs121913420
1 1.000 0.080 7 55174737 missense variant G/A snv 0.700 1.000 2 2010 2014
dbSNP: rs121913432
rs121913432
1 1.000 0.080 7 55181327 missense variant A/G snv 0.700 1.000 2 2008 2014
dbSNP: rs121913466
rs121913466
1 1.000 0.080 7 55174762 missense variant T/C snv 0.700 1.000 2 2009 2014
dbSNP: rs12686377
rs12686377
1 1.000 0.080 9 113241753 intron variant C/A;T snv 0.020 1.000 2 2012 2016
dbSNP: rs374873413
rs374873413
1 1.000 0.080 7 55181302 missense variant G/A;C snv 4.0E-05; 8.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs397516976
rs397516976
1 1.000 0.080 17 39724733 inframe insertion -/CTCCGTGATGGC delins 0.700 1.000 2 2004 2012
dbSNP: rs397517116
rs397517116
1 1.000 0.080 7 55181325 inframe insertion -/CACGTG delins 0.700 1.000 2 2005 2006
dbSNP: rs397517127
rs397517127
1 1.000 0.080 7 55191749 missense variant G/C;T snv 0.700 1.000 2 2006 2007
dbSNP: rs7525160
rs7525160
CR1
1 1.000 0.080 1 207495069 upstream gene variant G/C snv 0.29 0.020 1.000 2 2014 2019
dbSNP: rs7897947
rs7897947
1 1.000 0.080 10 102397954 intron variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.23 0.020 1.000 2 2018 2019
dbSNP: rs1001581
rs1001581
1 1.000 0.080 19 43561236 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs10023113
rs10023113
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
dbSNP: rs1005165
rs1005165
1 1.000 0.080 19 45405792 intron variant C/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1042852
rs1042852
1 1.000 0.080 3 105658671 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519858
rs1057519858
1 1.000 0.080 19 1220495 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1059292
rs1059292
1 1.000 0.080 11 62855579 non coding transcript exon variant T/C snv 7.2E-02 9.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1077424
rs1077424
1 1.000 0.080 1 57344632 intron variant G/C snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs10878232
rs10878232
1 1.000 0.080 12 65128867 intergenic variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10981694
rs10981694
1 1.000 0.080 9 113224129 intron variant T/G snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs11045585
rs11045585
1 1.000 0.080 12 20892760 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019