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: rs104893823
rs104893823
5 0.882 0.040 3 52451285 missense variant C/T snv 0.040 1.000 4 2007 2016
dbSNP: rs104894501
rs104894501
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2011
dbSNP: rs104894505
rs104894505
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2009
dbSNP: rs104894655
rs104894655
3 0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 0.700 1.000 1 2000 2000
dbSNP: rs104894942
rs104894942
2 1.000 0.120 X 154413248 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1064793814
rs1064793814
1 2 178559769 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs10859313
rs10859313
1 12 92411657 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs10927875
rs10927875
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.800 1.000 1 2011 2011
dbSNP: rs111033559
rs111033559
4 0.925 0.040 6 118558946 missense variant C/T snv 0.710 1.000 10 2003 2018
dbSNP: rs111033560
rs111033560
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
dbSNP: rs1114167453
rs1114167453
4 1.000 19 45385569 stop gained G/C snv 0.700 0
dbSNP: rs111569862
rs111569862
1 1 156137653 splice acceptor variant G/A;C snv 0.700 1.000 2 2008 2016
dbSNP: rs112188483
rs112188483
3 0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs112240298
rs112240298
1 2 178538945 splice donor variant C/G;T snv 0.700 0
dbSNP: rs114638163
rs114638163
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11701453
rs11701453
1 21 34966619 intron variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1212453165
rs1212453165
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2009
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.020 1.000 2 2001 2008
dbSNP: rs121913627
rs121913627
8 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913630
rs121913630
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs121913642
rs121913642
3 0.925 0.080 14 23427879 missense variant A/G snv 0.700 1.000 6 1989 2013
dbSNP: rs121913647
rs121913647
4 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.030 1.000 3 2006 2013
dbSNP: rs1266360671
rs1266360671
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015