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: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.830 1.000 4 2009 2015
dbSNP: rs17264332
rs17264332
2 0.925 0.200 6 137684378 intron variant A/G;T snv 0.800 1.000 3 2011 2016
dbSNP: rs1980422
rs1980422
9 0.776 0.320 2 203745673 intergenic variant C/A;T snv 0.800 1.000 3 2011 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.667 3 1998 2015
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.800 1.000 2 2008 2010
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.800 1.000 2 2011 2016
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.800 1.000 2 2011 2014
dbSNP: rs2387397
rs2387397
1 1.000 0.080 10 6348230 intron variant G/A;C snv 0.800 1.000 2 2011 2012
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2012 2018
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.810 1.000 2 2011 2015
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2012 2018
dbSNP: rs6691768
rs6691768
1 1.000 0.080 1 61326191 intron variant G/A;C snv 0.800 1.000 2 2010 2016
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.020 1.000 2 2010 2013
dbSNP: rs7753008
rs7753008
1 1.000 0.080 6 90099920 intron variant T/A;C snv 0.800 1.000 2 2011 2012
dbSNP: rs802734
rs802734
7 0.827 0.280 6 127957653 intergenic variant A/G;T snv 0.810 1.000 2 2010 2014
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 1.000 2 2012 2018
dbSNP: rs10188217
rs10188217
2 0.925 0.080 2 60990407 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11066188
rs11066188
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs11552708
rs11552708
5 0.882 0.240 17 7559238 missense variant G/A;C snv 0.13; 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015