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: rs137853016
rs137853016
1 1.000 0.160 13 23331656 missense variant C/G snv 0.800 1.000 15 2000 2016
dbSNP: rs137853017
rs137853017
1 1.000 0.160 13 23338040 missense variant A/G snv 0.800 1.000 15 2000 2016
dbSNP: rs137853019
rs137853019
1 1.000 0.160 13 23340715 missense variant A/G snv 0.800 1.000 15 2000 2016
dbSNP: rs745961541
rs745961541
1 1.000 0.160 13 23330471 missense variant C/G;T snv 0.700 1.000 3 2011 2014
dbSNP: rs1057517123
rs1057517123
1 1.000 0.160 13 23330592 stop gained -/T delins 0.700 1.000 2 2011 2015
dbSNP: rs1160357920
rs1160357920
2 0.925 0.160 13 23339132 missense variant C/T snv 7.0E-06 0.700 1.000 2 2013 2017
dbSNP: rs1214399996
rs1214399996
1 1.000 0.160 13 23337704 frameshift variant A/-;AA delins 0.700 1.000 2 2006 2015
dbSNP: rs1400601705
rs1400601705
1 1.000 0.160 13 23332610 frameshift variant AT/- delins 7.0E-06 0.700 1.000 2 2010 2012
dbSNP: rs1057516224
rs1057516224
1 1.000 0.160 13 23354536 frameshift variant G/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1057516365
rs1057516365
1 1.000 0.160 13 23355383 frameshift variant AA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1057516398
rs1057516398
1 1.000 0.160 13 23332691 stop gained G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs1057517285
rs1057517285
1 1.000 0.160 13 23341652 stop gained G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1555251963
rs1555251963
1 1.000 0.160 13 23337885 frameshift variant AG/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1555254439
rs1555254439
1 1.000 0.160 13 23355780 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs767871841
rs767871841
2 0.925 0.160 13 23335083 frameshift variant T/-;TT delins 0.700 1.000 1 2005 2005
dbSNP: rs770866403
rs770866403
1 1.000 0.160 13 23340548 frameshift variant T/-;TT delins 0.700 1.000 1 2003 2003
dbSNP: rs786204416
rs786204416
1 1.000 0.160 13 23333409 frameshift variant GA/- delins 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs786204750
rs786204750
1 1.000 0.160 13 23336600 stop gained G/A snv 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1057516222
rs1057516222
1 1.000 0.160 13 23339837 frameshift variant G/- del 0.700 0
dbSNP: rs1057516285
rs1057516285
1 1.000 0.160 13 23339116 frameshift variant T/- del 0.700 0
dbSNP: rs1057516294
rs1057516294
1 1.000 0.160 13 23339405 frameshift variant TGCATTT/- delins 0.700 0
dbSNP: rs1057516295
rs1057516295
1 1.000 0.160 13 23337556 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516347
rs1057516347
1 1.000 0.160 13 23331336 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516406
rs1057516406
1 1.000 0.160 13 23355334 frameshift variant -/AA delins 0.700 0
dbSNP: rs1057516438
rs1057516438
1 1.000 0.160 13 23336352 frameshift variant TTCT/- delins 0.700 0