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: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.710 1.000 1 2019 2019
dbSNP: rs1801266
rs1801266
1 1.000 0.080 1 97691776 missense variant G/A snv 8.0E-05 3.5E-05 0.710 1.000 1 1997 1997
dbSNP: rs72549310
rs72549310
1 1.000 0.080 1 97883353 stop gained G/A snv 1.2E-05 0.700 1.000 3 2003 2014
dbSNP: rs1057516357
rs1057516357
1 1.000 0.080 1 97573759 splice donor variant C/A snv 0.700 1.000 1 2005 2005
dbSNP: rs1057516968
rs1057516968
3 1.000 0.080 1 97515785 stop gained G/A snv 8.0E-06 3.5E-05 0.700 1.000 1 2016 2016
dbSNP: rs141597515
rs141597515
1 1.000 0.080 1 97828139 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 1 2014 2014
dbSNP: rs146170505
rs146170505
1 1.000 0.080 1 97699370 stop gained C/A snv 3.2E-05 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1553201476
rs1553201476
1 1.000 0.080 1 97593304 frameshift variant CA/- delins 0.700 1.000 1 2002 2002
dbSNP: rs746991079
rs746991079
1 1.000 0.080 1 97193112 frameshift variant T/- del 3.6E-05 6.3E-05 0.700 1.000 1 2011 2011
dbSNP: rs749571474
rs749571474
1 1.000 0.080 1 97593236 frameshift variant AT/- delins 4.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs773499329
rs773499329
1 1.000 0.080 1 97373561 frameshift variant TGCCCACAGGCCAGGC/- delins 2.1E-05 0.700 1.000 1 2012 2012
dbSNP: rs1057516356
rs1057516356
1 1.000 0.080 1 97721672 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1057516388
rs1057516388
1 1.000 0.080 1 97450101 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1057516405
rs1057516405
1 1.000 0.080 1 97883262 splice donor variant A/T snv 0.700 0
dbSNP: rs1057516510
rs1057516510
1 1.000 0.080 1 97234956 frameshift variant AGGT/GC delins 0.700 0
dbSNP: rs1057516615
rs1057516615
1 1.000 0.080 1 97549566 frameshift variant G/- del 0.700 0
dbSNP: rs1057516671
rs1057516671
1 1.000 0.080 1 97450133 stop gained C/A snv 0.700 0
dbSNP: rs1057516696
rs1057516696
1 1.000 0.080 1 97595167 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1057516710
rs1057516710
1 1.000 0.080 1 97382397 frameshift variant G/- del 0.700 0
dbSNP: rs1057516711
rs1057516711
1 1.000 0.080 1 97595107 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516713
rs1057516713
1 1.000 0.080 1 97549746 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs1057516761
rs1057516761
1 1.000 0.080 1 97573783 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516763
rs1057516763
1 1.000 0.080 1 97721509 splice donor variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057516828
rs1057516828
1 1.000 0.080 1 97305271 frameshift variant -/T ins 0.700 0
dbSNP: rs1057516873
rs1057516873
1 1.000 0.080 1 97098575 stop gained T/A;C snv 4.0E-06 0.700 0