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: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2013 2015
dbSNP: rs1371329921
rs1371329921
2 0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1616583
rs1616583
3 0.882 0.120 X 12891363 downstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 < 0.001 1 2010 2010
dbSNP: rs4833095
rs4833095
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2005 2005
dbSNP: rs5743611
rs5743611
7 0.807 0.160 4 38798593 missense variant C/G snv 6.9E-02 7.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2005 2005
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs6438552
rs6438552
9 0.790 0.280 3 119912967 intron variant A/G snv 0.54 0.010 < 0.001 1 2010 2010
dbSNP: rs775910328
rs775910328
3 0.882 0.120 9 117713471 missense variant A/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs778657916
rs778657916
1 1.000 0.040 9 117713902 stop gained C/T snv 1.2E-05 1.4E-05 0.010 < 0.001 1 2013 2013