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: rs11603305
rs11603305
1 1.000 0.120 11 10976402 regulatory region variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs13407215
rs13407215
1 1.000 0.120 2 160688380 intergenic variant C/T snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1906252
rs1906252
3 0.925 0.120 6 98102413 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs191044310
rs191044310
1 1.000 0.120 10 23416522 intergenic variant T/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs621942
rs621942
1 1.000 0.120 11 86072696 upstream gene variant C/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs72853320
rs72853320
1 1.000 0.120 6 36655561 regulatory region variant G/A snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs2228079
rs2228079
4 0.882 0.160 1 203129147 synonymous variant T/G snv 0.31 0.26 0.010 1.000 1 2015 2015
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2015
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs9357271
rs9357271
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.030 1.000 3 2009 2014
dbSNP: rs9296249
rs9296249
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.020 1.000 2 2012 2014
dbSNP: rs4714156
rs4714156
2 0.925 0.120 6 38393336 intron variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs3793798
rs3793798
1 1.000 0.120 10 49663420 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004
dbSNP: rs7868992
rs7868992
1 1.000 0.120 9 114228791 intron variant G/A snv 0.63 0.810 1.000 2 2013 2015
dbSNP: rs4979356
rs4979356
1 1.000 0.120 9 114228704 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4979357
rs4979357
1 1.000 0.120 9 114228715 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2000 2000
dbSNP: rs117648881
rs117648881
1 1.000 0.120 8 112569669 intron variant G/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11264126
rs11264126
1 1.000 0.120 1 34876494 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs12141243
rs12141243
1 1.000 0.120 1 34881321 intron variant T/C snv 9.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2015 2015