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: rs1057517903
rs1057517903
DSP
3 0.882 0.120 6 7575294 splice acceptor variant G/C snv 0.700 1.000 3 2010 2015
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: rs1194358112
rs1194358112
DSP
2 0.925 0.120 6 7584502 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs1236464864
rs1236464864
DSP
3 0.882 0.120 6 7580585 stop gained T/C;G snv 1.4E-05 0.700 1.000 1 2015 2015
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: rs140474226
rs140474226
DSP
3 0.882 0.120 6 7580370 stop gained C/T snv 0.700 1.000 1 2016 2016
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: 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: 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: rs1554108012
rs1554108012
DSP
4 0.882 0.120 6 7579323 stop gained C/T snv 0.700 1.000 3 2005 2014
dbSNP: rs1554108050
rs1554108050
DSP
2 0.925 0.120 6 7579431 stop gained G/T snv 0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
4 0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 0.700 0
dbSNP: rs1554108410
rs1554108410
DSP
3 0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins 0.700 0
dbSNP: rs1554108431
rs1554108431
DSP
4 0.882 0.120 6 7581189 stop gained C/T snv 0.700 0
dbSNP: rs1554108477
rs1554108477
DSP
3 0.882 0.120 6 7581459 stop gained C/T snv 0.700 0
dbSNP: rs1554108609
rs1554108609
DSP
2 0.925 0.120 6 7582719 frameshift variant -/A delins 0.700 0
dbSNP: rs1554108621
rs1554108621
DSP
2 0.925 0.120 6 7582812 frameshift variant ACAGCGCC/GTG delins 0.700 1.000 1 2000 2000
dbSNP: rs1554108859
rs1554108859
DSP
2 0.925 0.120 6 7583727 frameshift variant -/A delins 0.700 1.000 2 2013 2017
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