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: rs574034197
rs574034197
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.800 1.000 17 1997 2015
dbSNP: rs753063086
rs753063086
2 0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.800 1.000 17 1997 2017
dbSNP: rs878853665
rs878853665
1 1.000 0.120 16 89740024 missense variant A/G snv 0.700 1.000 11 1997 2009
dbSNP: rs1429943036
rs1429943036
1 1.000 0.120 16 89749805 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 1997 2008
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: rs374030577
rs374030577
1 1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs76275444
rs76275444
1 1.000 0.120 16 89816592 missense variant G/A;C snv 5.0E-03 0.700 1.000 9 1997 2008
dbSNP: rs755546887
rs755546887
2 0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs759877008
rs759877008
2 0.925 0.120 16 89805275 splice region variant C/A;T snv 1.6E-05 0.700 1.000 7 1999 2018
dbSNP: rs755922289
rs755922289
2 0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-05 0.700 1.000 6 2000 2015
dbSNP: rs776969626
rs776969626
1 1.000 0.120 16 89739175 frameshift variant TG/- delins 0.700 1.000 5 2011 2016
dbSNP: rs1490352414
rs1490352414
1 1.000 0.120 16 89770179 missense variant A/G snv 9.5E-06 0.700 1.000 4 2005 2012
dbSNP: rs752160950
rs752160950
2 0.925 0.120 16 89767185 stop gained G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 4 2005 2015
dbSNP: rs762526878
rs762526878
1 1.000 0.120 16 89771778 missense variant A/G snv 8.0E-06 0.700 1.000 4 2005 2014
dbSNP: rs769479800
rs769479800
2 0.925 0.120 16 89816614 start lost A/G;T snv 4.1E-05; 8.3E-06 0.700 1.000 4 2005 2014
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: rs751266148
rs751266148
1 1.000 0.120 16 89748658 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 3 2013 2016
dbSNP: rs915983602
rs915983602
1 1.000 0.120 16 89738710 splice acceptor variant T/A;C;G snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 3 2004 2016
dbSNP: rs927630499
rs927630499
1 1.000 0.120 16 89758688 stop gained C/T snv 0.700 1.000 3 2008 2013
dbSNP: rs1247378731
rs1247378731
1 1.000 0.120 16 89767213 stop gained G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs1285346388
rs1285346388
1 1.000 0.120 16 89758702 splice acceptor variant CTAGAACAGCAAACACTGC/- delins 0.700 1.000 2 1997 2008