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: 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: 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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
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: rs570874680
rs570874680
1 5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 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
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2017 2017
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2008 2008
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: rs9524885
rs9524885
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs9658498
rs9658498
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
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: 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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 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: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057518925
rs1057518925
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0