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: rs397514039
rs397514039
DSP
1 1.000 0.120 6 7584884 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs397514045
rs397514045
DSP
1 1.000 0.120 6 7585040 frameshift variant T/- delins 0.700 0
dbSNP: rs141026028
rs141026028
DSP
2 0.925 0.120 6 7583758 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 5 2011 2017
dbSNP: rs113726158
rs113726158
DSP
2 0.925 0.120 6 7565357 splice acceptor variant A/G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs1554106743
rs1554106743
DSP
2 0.925 0.120 6 7567819 frameshift variant G/- delins 0.700 1.000 3 2005 2014
dbSNP: rs1554106830
rs1554106830
DSP
2 0.925 0.120 6 7568435 splice acceptor variant A/G snv 0.700 1.000 3 2010 2015
dbSNP: rs1554107741
rs1554107741
DSP
2 0.925 0.120 6 7576457 splice donor variant G/T snv 0.700 1.000 3 2010 2015
dbSNP: rs1554108859
rs1554108859
DSP
2 0.925 0.120 6 7583727 frameshift variant -/A delins 0.700 1.000 2 2013 2017
dbSNP: rs1561701401
rs1561701401
DSP
2 0.925 0.120 6 7583032 frameshift variant CA/- delins 0.700 1.000 2 2013 2017
dbSNP: rs1561702640
rs1561702640
DSP
2 0.925 0.120 6 7583764 frameshift variant TCAG/- delins 0.700 1.000 2 2011 2017
dbSNP: rs1561703363
rs1561703363
DSP
2 0.925 0.120 6 7584337 frameshift variant A/- del 0.700 1.000 2 2011 2017
dbSNP: rs1561704475
rs1561704475
DSP
2 0.925 0.120 6 7585133 frameshift variant CA/- delins 0.700 1.000 2 2011 2017
dbSNP: rs886039343
rs886039343
DSP
2 0.925 0.120 6 7555815 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 2 2010 2014
dbSNP: rs1487814687
rs1487814687
DSP
2 0.925 0.120 6 7582927 frameshift variant GAGA/-;GA delins 0.700 1.000 1 2000 2000
dbSNP: rs1554106742
rs1554106742
DSP
2 0.925 0.120 6 7567802 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs1554108621
rs1554108621
DSP
2 0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins 0.700 1.000 1 2000 2000
dbSNP: rs774763657
rs774763657
DSP
2 0.925 0.120 6 7582941 frameshift variant AGTC/- delins 1.2E-05 0.700 1.000 1 2000 2000
dbSNP: rs794728124
rs794728124
DSP
2 0.925 0.120 6 7581402 stop gained C/T snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1194358112
rs1194358112
DSP
2 0.925 0.120 6 7584502 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1267435790
rs1267435790
DSP
2 0.925 0.120 6 7570444 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs1394836623
rs1394836623
DSP
2 0.925 0.120 6 7581511 frameshift variant AGAG/-;AG delins 1.4E-05 0.700 0
dbSNP: rs1554108050
rs1554108050
DSP
2 0.925 0.120 6 7579431 stop gained G/T snv 0.700 0
dbSNP: rs1554108609
rs1554108609
DSP
2 0.925 0.120 6 7582719 frameshift variant -/A delins 0.700 0
dbSNP: rs1561680649
rs1561680649
DSP
2 0.925 0.120 6 7558171 stop gained GT/AA mnv 0.700 0
dbSNP: rs1561687796
rs1561687796
DSP
2 0.925 0.120 6 7568448 frameshift variant -/A delins 0.700 0