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: 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: 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: 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: 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: 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: 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
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs28932171
rs28932171
1 1.000 0.040 10 60071532 missense variant T/C snv 7.2E-02 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs386231
rs386231
4 0.882 0.080 1 162356033 intron variant C/T snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs406001
rs406001
1 1.000 0.040 7 51938719 intergenic variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs451275
rs451275
1 1.000 0.040 5 142392033 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs4576167
rs4576167
1 1.000 0.040 5 168459692 intron variant G/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs4775301
rs4775301
2 0.925 0.040 15 60834660 intron variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs4792887
rs4792887
4 0.882 0.080 17 45799654 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2013 2013