Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554893831
rs1554893831
10 87894102 inframe deletion GTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 7 1999 2015
dbSNP: rs1554826024
rs1554826024
10 87965294 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1997 2013
dbSNP: rs1114167664
rs1114167664
10 87957970 missense variant GT/TG mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1999 2016
dbSNP: rs786202517
rs786202517
10 87894050 missense variant GG/AC mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 5 1998 2011
dbSNP: rs1554826052
rs1554826052
10 87965387 frameshift variant -/AT ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 1999 2014
dbSNP: rs786202688
rs786202688
10 87933234 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 1999 2011
dbSNP: rs876660879
rs876660879
10 87965472 stop lost A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 4 2005 2014
dbSNP: rs398123329
rs398123329
10 87960922 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 3 2005 2015
dbSNP: rs1114167633
rs1114167633
10 87957979 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2011
dbSNP: rs1114167647
rs1114167647
10 87933118 missense variant C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2010 2011
dbSNP: rs1114167656
rs1114167656
10 87933136 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2015
dbSNP: rs1114167666
rs1114167666
10 87957954 inframe deletion GTTACC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 1999 2015
dbSNP: rs1114167671
rs1114167671
10 87925525 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2003 2004
dbSNP: rs1114167676
rs1114167676
10 87933161 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2013 2015
dbSNP: rs1554898123
rs1554898123
10 87933129 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2009 2011
dbSNP: rs398123325
rs398123325
10 87933222 missense variant T/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2011
dbSNP: rs587780006
rs587780006
10 87960975 frameshift variant -/T;TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2014
dbSNP: rs786202733
rs786202733
10 87952165 stop gained C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2007 2011
dbSNP: rs786202840
rs786202840
10 87960942 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2008 2014
dbSNP: rs786204934
rs786204934
10 87933207 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2011 2015
dbSNP: rs1064796078
rs1064796078
10 87864515 missense variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2014 2014
dbSNP: rs1114167625
rs1114167625
10 87864508 inframe deletion AAG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs1114167626
rs1114167626
10 87933074 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs1114167631
rs1114167631
10 87952127 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011
dbSNP: rs1114167661
rs1114167661
10 87957974 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2011 2011