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: rs900418273
rs900418273
8 0.807 0.120 11 113393764 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.040 1.000 4 2008 2012
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.030 0.667 3 1996 1998
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 1.000 2 2007 2014
dbSNP: rs2734835
rs2734835
1 1.000 0.080 11 113420621 intron variant T/G snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1800498
rs1800498
4 0.882 0.080 11 113420866 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1116313
rs1116313
1 1.000 0.080 11 113425385 intron variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2014 2017
dbSNP: rs61902812
rs61902812
3 1.000 0.080 11 113503698 intergenic variant C/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs4936277
rs4936277
3 1.000 0.080 11 113561238 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2011 2013
dbSNP: rs2276305
rs2276305
1 1.000 0.080 11 113932382 synonymous variant G/A;C;T snv 7.7E-02; 2.8E-03; 5.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs33940208
rs33940208
1 1.000 0.080 11 113975355 synonymous variant C/T snv 8.2E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs10160548
rs10160548
1 1.000 0.080 11 113985959 intron variant G/T snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs2134655
rs2134655
2 0.925 0.080 3 114139354 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2006 2014
dbSNP: rs727532
rs727532
1 1.000 0.080 10 114445017 intron variant A/G snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.333 3 1999 2003
dbSNP: rs141424017
rs141424017
3 1.000 0.080 7 115311376 intergenic variant -/CAA ins 0.700 1.000 1 2019 2019
dbSNP: rs363387
rs363387
1 1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02 0.020 1.000 2 2005 2013
dbSNP: rs13273672
rs13273672
2 0.925 0.080 8 11754872 intron variant T/C snv 0.34 0.030 0.667 3 2014 2016
dbSNP: rs10892169
rs10892169
1 1.000 0.080 11 117762339 intron variant A/G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2018
dbSNP: rs7777391
rs7777391
1 1.000 0.080 7 117981823 intergenic variant A/G snv 0.60 0.700 1.000 1 2011 2011