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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2004 2010
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2007 2007
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2007 2007
dbSNP: rs138110
rs138110
2 0.925 0.040 22 43863901 upstream gene variant A/G snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2009 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2009 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs149740908
rs149740908
2 0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013
dbSNP: rs4721295
rs4721295
3 0.882 0.040 7 1997034 intron variant T/G snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs6558872
rs6558872
3 0.882 0.040 8 4380617 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6703335
rs6703335
3 0.882 0.040 1 243445665 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs2067477
rs2067477
3 0.882 0.080 11 62910834 synonymous variant G/T snv 0.11 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs4470690
rs4470690
2 0.925 0.040 4 187800358 intergenic variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
dbSNP: rs75583333
rs75583333
2 0.925 0.040 5 160168028 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs79323383
rs79323383
2 0.925 0.040 8 120839185 intergenic variant T/G snv 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs9347865
rs9347865
2 0.925 0.040 6 164507108 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016