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: rs221798
rs221798
3 0.882 0.040 7 100689872 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs221774
rs221774
4 0.851 0.080 7 100701361 upstream gene variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs506597
rs506597
4 0.882 0.040 7 100715797 upstream gene variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs6738485
rs6738485
3 0.882 0.040 2 106193504 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs56031956
rs56031956
3 0.882 0.040 9 108863349 missense variant C/G snv 2.3E-02 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs77867520
rs77867520
3 0.882 0.040 4 11186225 intergenic variant C/T snv 7.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs7939917
rs7939917
3 0.882 0.040 11 113697374 missense variant C/T snv 2.0E-03 9.2E-03 0.700 1.000 1 2017 2017
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: rs61945387
rs61945387
3 0.882 0.040 12 117921609 intron variant A/G snv 7.7E-02 0.700 1.000 1 2017 2017
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: 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: 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: 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: rs201048567
rs201048567
3 0.882 0.040 7 125615031 intergenic variant CA/- delins 1.0E-05 0.700 1.000 1 2017 2017
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: rs137928907
rs137928907
3 0.882 0.040 12 130827204 missense variant A/C snv 1.4E-02 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs105633
rs105633
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs62482377
rs62482377
3 0.882 0.040 7 156250946 intergenic variant G/C snv 0.10 0.700 1.000 1 2017 2017
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: rs9347865
rs9347865
2 0.925 0.040 6 164507108 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs146330533
rs146330533
3 0.882 0.040 1 17669971 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs56196471
rs56196471
3 0.882 0.040 4 178642661 intergenic variant G/A snv 2.9E-02 0.700 1.000 1 2017 2017
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: rs4721295
rs4721295
3 0.882 0.040 7 1997034 intron variant T/G snv 0.33 0.700 1.000 1 2013 2013