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: rs1411766
rs1411766
3 0.882 0.160 13 109599813 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1324805
rs1324805
1 1.000 0.040 X 109719433 intron variant A/G snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs2289046
rs2289046
5 0.827 0.240 13 109755559 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs9925481
rs9925481
5 0.882 0.160 16 11003622 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3813829
rs3813829
2 0.925 0.080 4 110199010 intron variant A/G snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs376207800
rs376207800
1 0.882 0.080 19 11100340 missense variant C/G;T snv 1.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs879254725
rs879254725
1 0.925 0.080 19 11107508 stop gained G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs879254728
rs879254728
2 0.882 0.080 19 11107511 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs768925824
rs768925824
4 0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs370471092
rs370471092
1 0.925 0.080 19 11110768 stop gained G/A;T snv 6.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs760034984
rs760034984
1 1.000 0.040 19 11120434 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3782886
rs3782886
12 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs11066001
rs11066001
10 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
93 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.710 1.000 1 2017 2017
dbSNP: rs7819412
rs7819412
5 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs3748024
rs3748024
3 0.925 0.080 2 112588836 3 prime UTR variant C/G snv 0.41 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs7903146
rs7903146
79 0.554 0.680 10 112998590 intron variant C/G;T snv 0.870 0.875 7 2008 2018
dbSNP: rs12255372
rs12255372
26 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 0.667 3 2009 2018
dbSNP: rs10749127
rs10749127
1 1.000 0.040 10 113089594 intron variant C/T snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs928940
rs928940
3 0.882 0.120 2 113119918 intron variant G/T snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 1.000 1 2010 2010
dbSNP: rs565119818
rs565119818
1 1.000 0.040 10 113151854 synonymous variant C/T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs575072438
rs575072438
1 1.000 0.040 10 113152371 synonymous variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2011 2011