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: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs267607144
rs267607144
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.020 1.000 2 2006 2010
dbSNP: rs1057519320
rs1057519320
7 0.807 0.160 15 48444574 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
7 0.807 0.160 5 128349391 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1114167445
rs1114167445
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs11190870
rs11190870
6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918274
rs121918274
3 0.882 0.200 11 124870650 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1400182
rs1400182
1 1.000 0.040 3 128928 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1535462
rs1535462
1 1.000 0.040 10 101214115 TF binding site variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1553403917
rs1553403917
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1557055405
rs1557055405
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1561881909
rs1561881909
9 0.925 0.200 6 43044835 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1561892336
rs1561892336
13 0.807 0.200 6 43050050 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1561898352
rs1561898352
8 0.882 0.200 6 43052582 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs17326792
rs17326792
1 1.000 0.040 3 131073 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2393069
rs2393069
1 1.000 0.040 10 56359144 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs281865136
rs281865136
3 0.882 0.120 10 62813562 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs28937581
rs28937581
9 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs3950032
rs3950032
1 1.000 0.040 10 101214352 TF binding site variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs431905504
rs431905504
9 0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06 0.700 1.000 1 2012 2012
dbSNP: rs594791
rs594791
1 1.000 0.040 10 101236039 intron variant T/C;G snv 0.700 1.000 1 2011 2011