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: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.080 1.000 8 2006 2013
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.750 8 2005 2016
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.030 1.000 3 2014 2018
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.030 1.000 3 2017 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 0.667 3 2010 2017
dbSNP: rs6332
rs6332
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.030 0.667 3 2008 2014
dbSNP: rs1412005
rs1412005
3 0.925 0.040 9 90646879 upstream gene variant T/A;G snv 0.020 1.000 2 2011 2016
dbSNP: rs145108385
rs145108385
2 0.925 0.040 5 43054645 intron variant A/G snv 0.700 1.000 2 2018 2019
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.020 1.000 2 2011 2013
dbSNP: rs2391769
rs2391769
3 0.925 0.040 1 96513405 regulatory region variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.810 1.000 2 2013 2015
dbSNP: rs27048
rs27048
2 1.000 0.040 5 1412530 intron variant C/A;G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs28386840
rs28386840
6 0.827 0.080 16 55652906 upstream gene variant T/A;C snv 0.020 1.000 2 2012 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2011 2012
dbSNP: rs4916723
rs4916723
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs8636
rs8636
1 1.000 0.040 20 10307094 3 prime UTR variant T/A;C snv 0.020 1.000 2 2012 2017
dbSNP: rs10492664
rs10492664
2 0.925 0.040 13 108163877 intergenic variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs10514604
rs10514604
1 1.000 0.040 16 84412778 intron variant C/A;G snv 0.800 1.000 1 2008 2008
dbSNP: rs1057517991
rs1057517991
2 0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs10762524
rs10762524
1 1.000 0.040 10 52014152 intron variant T/A;C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs10823973
rs10823973
1 1.000 0.040 10 52019720 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs11074889
rs11074889
1 1.000 0.040 16 10539308 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs11317767
rs11317767
1 1.000 0.040 17 8770824 intergenic variant TTT/-;TT;TTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019