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: rs1085307466
rs1085307466
3 1.000 0.160 19 1221990 stop gained C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs730881984
rs730881984
1 1.000 0.160 19 1221977 missense variant G/A;T snv 5.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs786202431
rs786202431
1 1.000 0.160 19 1223007 missense variant C/G;T snv 0.700 1.000 8 1998 2011
dbSNP: rs1568708382
rs1568708382
1 1.000 0.160 19 1220708 missense variant G/A snv 0.700 1.000 7 2001 2014
dbSNP: rs121913321
rs121913321
2 1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins 0.700 1.000 5 1998 2010
dbSNP: rs1568710381
rs1568710381
1 1.000 0.160 19 1221976 missense variant G/A snv 0.700 1.000 5 1999 2017
dbSNP: rs786201090
rs786201090
1 1.000 0.160 19 1221996 missense variant C/T snv 0.700 1.000 5 1999 2010
dbSNP: rs137853076
rs137853076
2 1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06 0.700 1.000 4 1998 2007
dbSNP: rs876658584
rs876658584
2 1.000 0.160 19 1218415 splice acceptor variant A/G snv 0.700 1.000 4 1999 2013
dbSNP: rs886039554
rs886039554
2 1.000 0.160 19 1220506 splice donor variant G/T snv 0.700 1.000 4 2004 2010
dbSNP: rs112675807
rs112675807
1 1.000 0.160 19 1218416 splice acceptor variant G/A;C;T snv 0.700 1.000 3 2000 2005
dbSNP: rs1131690917
rs1131690917
2 1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins 0.700 1.000 3 1999 2013
dbSNP: rs786205864
rs786205864
1 1.000 0.160 19 1221321 frameshift variant -/C delins 0.700 1.000 3 2000 2005
dbSNP: rs1057520039
rs1057520039
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 2 1999 2016
dbSNP: rs1131690921
rs1131690921
2 1.000 0.160 19 1221341 splice donor variant G/T snv 0.700 1.000 2 2004 2005
dbSNP: rs121913320
rs121913320
2 1.000 0.160 19 1221265 frameshift variant TTTG/- delins 0.700 1.000 2 1998 2005
dbSNP: rs1555735080
rs1555735080
1 1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins 0.700 1.000 2 2004 2005
dbSNP: rs1555738319
rs1555738319
1 1.000 0.160 19 1220580 splice acceptor variant G/A snv 0.700 1.000 2 2004 2005
dbSNP: rs1568690546
rs1568690546
1 1.000 0.160 19 1207205 splice donor variant TAA/- del 0.700 1.000 2 2004 2005
dbSNP: rs786201349
rs786201349
1 1.000 0.160 19 1220376 stop gained C/G;T snv 0.700 1.000 2 2005 2013
dbSNP: rs1057520038
rs1057520038
2 0.925 0.160 19 1220627 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1057520040
rs1057520040
1 1.000 0.160 19 1218449 missense variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs1555737814
rs1555737814
1 1.000 0.160 19 1219389 frameshift variant GT/- del 0.700 1.000 1 2017 2017
dbSNP: rs1555738683
rs1555738683
1 1.000 0.160 19 1221299 frameshift variant T/AC delins 0.700 1.000 1 2006 2006
dbSNP: rs587778695
rs587778695
1 1.000 0.160 19 1223152 missense variant C/A;T snv 4.1E-06; 8.2E-05 0.700 1.000 1 2012 2012