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: rs155417
rs155417
1 1.000 0.040 5 175441837 synonymous variant T/A;C snv 0.99 0.010 1.000 1 2010 2010
dbSNP: rs105633
rs105633
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs10747050
rs10747050
1 1.000 0.040 9 137161424 splice region variant G/A snv 0.94 0.95 0.010 1.000 1 2007 2007
dbSNP: rs450046
rs450046
4 0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs385440
rs385440
1 1.000 0.040 22 18913577 3 prime UTR variant A/G snv 0.91 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs2227956
rs2227956
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2008 2008
dbSNP: rs7758659
rs7758659
1 1.000 0.040 6 15593009 intron variant T/A;C snv 5.2E-06; 0.82 0.010 1.000 1 2007 2007
dbSNP: rs3813535
rs3813535
1 1.000 0.040 14 81278392 missense variant A/C;G snv 4.0E-06; 0.81 0.020 0.500 2 2011 2013
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.020 1.000 2 1997 2002
dbSNP: rs1648833
rs1648833
1 1.000 0.040 15 41842325 non coding transcript exon variant C/G;T snv 0.80 0.010 1.000 1 2005 2005
dbSNP: rs372055
rs372055
1 1.000 0.040 22 18913237 synonymous variant G/A snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs6971
rs6971
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 < 0.001 1 2000 2000
dbSNP: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.020 0.500 2 2005 2010
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2007 2007
dbSNP: rs490460
rs490460
1 1.000 0.040 11 117293049 splice region variant C/A;T snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs2303579
rs2303579
2 0.925 0.040 15 55860531 missense variant T/C snv 0.74 0.72 0.010 1.000 1 2019 2019
dbSNP: rs7157599
rs7157599
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1009382
rs1009382
1 1.000 0.040 6 32058330 missense variant C/A;G;T snv 0.72 0.010 1.000 1 2007 2007
dbSNP: rs1045280
rs1045280
3 0.882 0.160 17 4719343 synonymous variant C/T snv 0.71 0.62 0.020 0.500 2 2007 2008
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2011 2011
dbSNP: rs2307223
rs2307223
2 0.925 0.040 12 79621127 missense variant A/C;T snv 0.10; 0.70 0.010 1.000 1 2008 2008
dbSNP: rs2287939
rs2287939
4 0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70 0.010 1.000 1 2010 2010
dbSNP: rs2070565
rs2070565
3 0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 0.010 1.000 1 2014 2014
dbSNP: rs2278008
rs2278008
4 0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74 0.010 1.000 1 2010 2010
dbSNP: rs907094
rs907094
2 1.000 0.040 17 39634118 intron variant G/A snv 0.69 0.60 0.020 0.500 2 2008 2008