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: rs727504448
rs727504448
DES
2 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs727504452
rs727504452
1 2 178702186 frameshift variant CTGCCGTGCT/- delins 0.700 1.000 5 2002 2012
dbSNP: rs397516464
rs397516464
1 1 201364365 missense variant C/G;T snv 0.700 1.000 4 2004 2014
dbSNP: rs397516355
rs397516355
1 19 55154035 stop gained C/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs397517580
rs397517580
1 2 178621517 stop gained G/A snv 7.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs58978449
rs58978449
1 1 156134943 inframe deletion AAG/- delins 0.700 1.000 3 2000 2001
dbSNP: rs727503254
rs727503254
1 14 23424770 missense variant G/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs111569862
rs111569862
1 1 156137653 splice acceptor variant G/A;C snv 0.700 1.000 2 2008 2016
dbSNP: rs199476310
rs199476310
1 15 63057019 missense variant T/C snv 0.700 1.000 2 2010 2011
dbSNP: rs267607593
rs267607593
1 1 156134964 missense variant T/C snv 0.700 1.000 2 2003 2008
dbSNP: rs397516956
rs397516956
DSP
1 6 7562762 frameshift variant -/A delins 0.700 1.000 2 2000 2006
dbSNP: rs397517915
rs397517915
1 1 156135922 frameshift variant C/- del 0.700 1.000 2 2000 2012
dbSNP: rs45525839
rs45525839
1 1 201364357 missense variant G/A;C;T snv 4.0E-06; 2.0E-05 0.700 1.000 2 2008 2009
dbSNP: rs483352832
rs483352832
1 1 201364327 missense variant G/A snv 3.2E-05 0.700 1.000 2 2014 2016
dbSNP: rs58389804
rs58389804
1 1 156136049 frameshift variant T/- delins 0.700 1.000 2 2006 2011
dbSNP: rs727503258
rs727503258
1 14 23425358 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2011 2017
dbSNP: rs727504763
rs727504763
1 10 110821880 frameshift variant CC/G delins 0.700 1.000 2 2009 2010
dbSNP: rs758537946
rs758537946
1 18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2011 2013
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: rs11701453
rs11701453
1 21 34966619 intron variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1332805343
rs1332805343
1 1 237496705 missense variant G/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1436282251
rs1436282251
1 9 117678 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1554875409
rs1554875409
1 10 119651752 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs199476311
rs199476311
1 15 63059667 missense variant G/A snv 0.700 1.000 1 2010 2010