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: rs267607977
rs267607977
2 1.000 0.160 2 47475036 frameshift variant -/A ins 0.700 1.000 1 2002 2002
dbSNP: rs1553370366
rs1553370366
1 2 47480759 frameshift variant -/A delins 0.700 0
dbSNP: rs1553370435
rs1553370435
1 2 47480824 stop gained -/A delins 0.700 0
dbSNP: rs1558461615
rs1558461615
1 2 47412420 frameshift variant -/A delins 0.700 0
dbSNP: rs63750149
rs63750149
3 1.000 0.160 2 47478395 frameshift variant -/A delins 0.700 0
dbSNP: rs63750586
rs63750586
3 0.925 0.160 2 47429867 frameshift variant -/A delins 0.700 0
dbSNP: rs863225392
rs863225392
1 2 47478295 frameshift variant -/A delins 0.700 0
dbSNP: rs1553348896
rs1553348896
2 2 47403382 frameshift variant -/C delins 0.700 0
dbSNP: rs1553370431
rs1553370431
1 2 47480820 frameshift variant -/G delins 0.700 1.000 3 1998 2008
dbSNP: rs1553348842
rs1553348842
1 2 47403343 frameshift variant -/G delins 0.700 0
dbSNP: rs1553350787
rs1553350787
1 2 47410236 frameshift variant -/G delins 0.700 0
dbSNP: rs1553369100
rs1553369100
1 2 47476445 frameshift variant -/G delins 0.700 0
dbSNP: rs193922375
rs193922375
3 1.000 0.160 2 47414334 frameshift variant -/G delins 0.700 0
dbSNP: rs63750614
rs63750614
3 1.000 0.160 2 47403223 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs1558459096
rs1558459096
1 2 47410163 frameshift variant -/GT delins 0.700 0
dbSNP: rs63751142
rs63751142
3 1.000 0.160 2 47429886 frameshift variant -/T delins 0.700 1.000 5 2003 2005
dbSNP: rs63751453
rs63751453
2 1.000 0.160 2 47476495 frameshift variant -/T delins 0.700 1.000 2 2005 2009
dbSNP: rs587779103
rs587779103
3 1.000 0.160 2 47470989 frameshift variant -/T delins 0.700 1.000 1 2009 2009
dbSNP: rs1553352505
rs1553352505
1 2 47414351 frameshift variant -/T delins 0.700 0
dbSNP: rs1553370371
rs1553370371
1 2 47480768 frameshift variant -/T delins 0.700 0
dbSNP: rs1060502035
rs1060502035
1 2 47445574 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1553348898
rs1553348898
1 2 47403384 frameshift variant -/TC ins 0.700 0
dbSNP: rs1558508343
rs1558508343
1 2 47463135 frameshift variant -/TT ins 0.700 0
dbSNP: rs1553365719
rs1553365719
1 2 47463054 frameshift variant A/- delins 0.700 1.000 1 2009 2009
dbSNP: rs587779979
rs587779979
2 2 47414407 frameshift variant A/- delins 0.700 1.000 1 2016 2016