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: rs72796353
rs72796353
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs919766
rs919766
1 1.000 0.040 5 159320556 intron variant A/C snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs9891119
rs9891119
3 0.882 0.120 17 42355962 intron variant A/C snv 0.36 0.810 1.000 1 2013 2013
dbSNP: rs104895469
rs104895469
1 1.000 0.040 16 50710981 missense variant A/C snv 2.4E-04 1.5E-04 0.700 0
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs7076156
rs7076156
3 0.925 0.120 10 62655424 missense variant A/C;G snv 0.80 0.810 1.000 2 2011 2012
dbSNP: rs10051722
rs10051722
2 1.000 0.040 5 130768383 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10512734
rs10512734
1 1.000 0.040 5 40393503 intergenic variant A/C;G snv 0.29 0.700 1.000 1 2007 2007
dbSNP: rs11871801
rs11871801
1 1.000 0.040 17 42418754 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs1199103
rs1199103
1 1.000 0.040 10 58187470 downstream gene variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs145566594
rs145566594
1 1.000 0.040 3 12416950 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.700 1.000 1 2015 2015
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs200711300
rs200711300
3 0.925 0.040 18 12802118 missense variant A/C;G snv 1.6E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2302759
rs2302759
2 1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79 0.700 1.000 1 2007 2007
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs394522
rs394522
1 1.000 0.040 6 166984583 intron variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs527892258
rs527892258
3 0.925 0.040 16 50723350 missense variant A/C;G snv 1.7E-04; 4.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs714830
rs714830
5 0.827 0.120 6 20624151 intron variant A/C;G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs7195296
rs7195296
5 0.827 0.120 16 11655918 intergenic variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs740495
rs740495
1 1.000 0.040 19 1124836 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs104895429
rs104895429
1 1.000 0.040 16 50711152 missense variant A/C;G snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.020 1.000 2 2014 2014