Source: ALL
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: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2011 2012
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2012
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs11214105
rs11214105
2 1.000 0.120 11 112166930 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1212171
rs1212171
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs17841327
rs17841327
1 16 55660341 intron variant A/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2287396
rs2287396
1 14 77327849 non coding transcript exon variant C/T snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2293052
rs2293052
2 1.000 0.040 12 117277815 intron variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2794521
rs2794521
CRP
15 0.742 0.480 1 159715306 upstream gene variant C/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3766246
rs3766246
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs3783642
rs3783642
2 14 54893485 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs4251961
rs4251961
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs4719714
rs4719714
5 1.000 0.080 7 22721094 intron variant A/T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs574584
rs574584
1 8 26866167 intron variant C/G;T snv 0.010 1.000 1 2009 2009