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: rs1555392609
rs1555392609
1 1.000 0.080 15 38349515 stop gained C/T snv 0.700 1.000 2 2007 2012
dbSNP: rs1057518683
rs1057518683
1 1.000 0.080 15 38351302 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs864622410
rs864622410
1 1.000 0.080 15 38351125 frameshift variant AT/- del 0.700 1.000 1 2007 2007
dbSNP: rs1057517941
rs1057517941
1 1.000 0.080 15 38299386 stop gained C/T snv 7.0E-06 0.710 1.000 4 2009 2017
dbSNP: rs750777752
rs750777752
1 1.000 0.080 15 38299392 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 2009 2011
dbSNP: rs121434316
rs121434316
1 1.000 0.080 15 38349476 stop gained C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1555391053
rs1555391053
1 1.000 0.080 15 38322336 frameshift variant -/A delins 0.700 1.000 1 2011 2011