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: rs876659384
rs876659384
7 0.851 0.240 17 7673552 stop gained C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1555518239
rs1555518239
2 1.000 0.080 16 68833356 stop gained G/T snv 0.700 0
dbSNP: rs35572355
rs35572355
1 1.000 0.080 16 68833344 missense variant G/A;C snv 1.7E-04; 4.0E-06 0.700 1.000 2 1999 2002
dbSNP: rs1555518221
rs1555518221
2 1.000 0.080 16 68833320 frameshift variant -/C delins 0.700 1.000 4 1999 2018
dbSNP: rs1555518211
rs1555518211
2 1.000 0.080 16 68833296 stop gained A/G;T snv 0.700 1.000 3 1999 2013
dbSNP: rs1555518210
rs1555518210
2 1.000 0.080 16 68833288 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1567516230
rs1567516230
1 1.000 0.080 16 68829798 splice donor variant G/T snv 0.700 0
dbSNP: rs786203752
rs786203752
2 1.000 0.080 16 68829785 frameshift variant T/- delins 0.700 1.000 2 2013 2015
dbSNP: rs587783048
rs587783048
2 1.000 0.080 16 68829753 frameshift variant C/- delins 0.700 1.000 5 2007 2014
dbSNP: rs1555517889
rs1555517889
1 1.000 0.080 16 68829743 frameshift variant GGTATCTTCCCCGCCCTGCC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1375617541
rs1375617541
1 1.000 0.080 16 68829739 frameshift variant -/C delins 4.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs1060501248
rs1060501248
3 1.000 0.080 16 68829679 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs876660393
rs876660393
2 1.000 0.080 16 68829652 splice acceptor variant A/G snv 0.700 1.000 2 2004 2010
dbSNP: rs876658575
rs876658575
2 1.000 0.080 16 68828302 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs587780787
rs587780787
2 1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06 0.700 1.000 9 2004 2014
dbSNP: rs1555517680
rs1555517680
1 1.000 0.080 16 68828284 frameshift variant G/- delins 0.700 1.000 2 2005 2011
dbSNP: rs786202785
rs786202785
2 1.000 0.080 16 68828281 stop gained G/A;T snv 0.700 0
dbSNP: rs876658944
rs876658944
1 1.000 0.080 16 68828274 stop gained T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1060501244
rs1060501244
2 1.000 0.080 16 68828204 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2004 2015
dbSNP: rs1385720097
rs1385720097
2 1.000 0.080 16 68828173 splice acceptor variant G/C;T snv 0.700 1.000 2 2004 2010
dbSNP: rs149127230
rs149127230
1 1.000 0.080 16 68823566 stop gained G/A;C;T snv 1.7E-04; 4.0E-06 0.700 0
dbSNP: rs1555517136
rs1555517136
1 1.000 0.080 16 68823562 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs121964874
rs121964874
1 1.000 0.080 16 68823557 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs587781276
rs587781276
2 1.000 0.080 16 68823524 stop gained TG/- delins 0.700 1.000 6 2004 2015