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: rs878853665
rs878853665
1 1.000 0.120 16 89740024 missense variant A/G snv 0.700 1.000 11 1997 2009
dbSNP: rs1555533300
rs1555533300
1 1.000 0.120 16 89739220 missense variant C/T snv 0.700 1.000 9 1997 2008
dbSNP: rs1555533313
rs1555533313
1 1.000 0.120 16 89739225 missense variant C/A snv 0.700 1.000 9 1997 2008
dbSNP: rs1555534579
rs1555534579
1 1.000 0.120 16 89740848 missense variant A/G snv 0.700 1.000 9 1997 2008
dbSNP: rs776969626
rs776969626
1 1.000 0.120 16 89739175 frameshift variant TG/- delins 0.700 1.000 5 2011 2016
dbSNP: rs1173704265
rs1173704265
1 1.000 0.120 16 89767208 missense variant A/G snv 7.0E-06 0.700 1.000 4 1997 2012
dbSNP: rs1302083447
rs1302083447
2 0.925 0.120 16 89764930 missense variant T/G snv 7.0E-06 0.700 1.000 4 2005 2018
dbSNP: rs1205909298
rs1205909298
1 1.000 0.120 16 89767218 frameshift variant A/- delins 7.0E-06 0.700 1.000 3 1997 2009
dbSNP: rs1555538571
rs1555538571
1 1.000 0.120 16 89749730 missense variant C/T snv 0.700 1.000 3 2005 2014
dbSNP: rs1555545592
rs1555545592
1 1.000 0.120 16 89765068 splice acceptor variant T/A snv 0.700 1.000 3 1999 2013
dbSNP: rs1555580427
rs1555580427
1 1.000 0.120 16 89815903 stop gained G/A snv 0.700 1.000 3 1999 2016
dbSNP: rs868273545
rs868273545
1 1.000 0.120 16 89742803 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 3 1997 2016
dbSNP: rs927630499
rs927630499
1 1.000 0.120 16 89758688 stop gained C/T snv 0.700 1.000 3 2008 2013
dbSNP: rs1285346388
rs1285346388
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008
dbSNP: rs1555534521
rs1555534521
1 1.000 0.120 16 89740818 frameshift variant -/T delins 0.700 1.000 2 2005 2018
dbSNP: rs1567618907
rs1567618907
1 1.000 0.120 16 89770617 inframe deletion CAG/- delins 0.700 1.000 2 1999 2009
dbSNP: rs976556567
rs976556567
1 1.000 0.120 16 89796020 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 2 2005 2015
dbSNP: rs1055368753
rs1055368753
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1057516430
rs1057516430
2 0.925 0.120 16 89811060 stop gained G/A snv 0.710 1.000 1 2005 2005
dbSNP: rs1381684916
rs1381684916
1 1.000 0.120 16 89744993 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs1439817346
rs1439817346
1 1.000 0.120 16 89746857 stop gained G/A;C snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs1484087361
rs1484087361
1 1.000 0.120 16 89816605 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555524842
rs1555524842
3 0.882 0.120 16 74628505 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1555535527
rs1555535527
1 1.000 0.120 16 89742869 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555545553
rs1555545553
1 1.000 0.120 16 89765037 frameshift variant TG/- del 0.700 1.000 1 2016 2016