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: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.850 20 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.824 17 2006 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.060 0.833 6 2008 2019
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.050 0.800 5 2008 2019
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 0.750 8 2010 2019
dbSNP: rs562010289
rs562010289
2 0.925 0.120 1 183227583 missense variant G/A;C snv 1.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 0.667 3 2011 2012
dbSNP: rs12944712
rs12944712
3 0.925 0.040 17 45793781 intron variant G/A snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs16965628
rs16965628
3 0.882 0.040 17 30228407 intron variant G/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.030 0.667 3 2012 2019
dbSNP: rs2108977
rs2108977
1 1.000 0.040 11 18019049 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.060 1.000 6 2013 2019
dbSNP: rs2267735
rs2267735
2 0.925 0.120 7 31095890 intron variant C/G snv 0.47 0.050 0.800 5 2013 2017
dbSNP: rs8042149
rs8042149
3 0.882 0.160 15 60832754 intron variant T/G snv 0.44 0.720 1.000 3 2013 2019
dbSNP: rs10170218
rs10170218
1 1.000 0.040 2 187949717 intron variant A/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs11599164
rs11599164
1 1.000 0.040 10 60072226 missense variant G/T snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs16904179
rs16904179
1 1.000 0.040 8 129946705 intron variant G/A snv 6.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs17208576
rs17208576
1 1.000 0.040 10 60074815 synonymous variant G/A snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs182455
rs182455
2 0.925 0.120 1 25908492 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2013 2013