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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2018
dbSNP: rs1042718
rs1042718
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
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: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2010 2010
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: rs36010656
rs36010656
4 0.925 0.080 12 20711408 missense variant C/A;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs3740071
rs3740071
1 10 99830363 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
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: rs387907170
rs387907170
3 0.925 0.080 4 158703436 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs574584
rs574584
1 8 26866167 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9332377
rs9332377
5 0.882 0.120 22 19968169 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs949060
rs949060
1 18 77246982 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs9658498
rs9658498
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518925
rs1057518925
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1553315329
rs1553315329
3 2 32116153 stop gained C/A;T snv 0.700 0