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: rs529008617
rs529008617
0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 18 2005 2017
dbSNP: rs367543046
rs367543046
FH
1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 16 1997 2015
dbSNP: rs74315368
rs74315368
0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 16 2004 2015
dbSNP: rs74315370
rs74315370
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 16 2002 2015
dbSNP: rs140342925
rs140342925
0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 15 2005 2016
dbSNP: rs772551056
rs772551056
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 14 2002 2018
dbSNP: rs36053993
rs36053993
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 2009 2015
dbSNP: rs397516836
rs397516836
0.882 0.080 1 17024015 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 2006 2018
dbSNP: rs587782604
rs587782604
0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 2005 2017
dbSNP: rs876658367
rs876658367
0.882 0.080 1 17024028 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 13 2002 2014
dbSNP: rs121908381
rs121908381
0.925 0.120 1 45331220 stop gained C/A snv 5.2E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 12 2002 2017
dbSNP: rs267607032
rs267607032
0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 12 2008 2018
dbSNP: rs786202732
rs786202732
0.882 0.080 1 17024041 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 12 1995 2018
dbSNP: rs121913121
rs121913121
FH
0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 11 2002 2016
dbSNP: rs786203457
rs786203457
1 161356815 missense variant A/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 11 2009 2018
dbSNP: rs121913123
rs121913123
FH
0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2002 2015
dbSNP: rs138775799
rs138775799
0.925 0.120 1 45333472 stop gained G/A snv 1.2E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2003 2010
dbSNP: rs587778536
rs587778536
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2003 2017
dbSNP: rs587780078
rs587780078
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2004 2017
dbSNP: rs587780082
rs587780082
0.925 0.120 1 45331835 stop gained G/A snv 8.2E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2003 2017
dbSNP: rs587781682
rs587781682
FH
1.000 0.200 1 241508644 missense variant G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 1997 2011
dbSNP: rs786202100
rs786202100
0.925 0.080 1 17044791 frameshift variant GAGGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 10 2004 2014
dbSNP: rs138996609
rs138996609
0.882 0.080 1 17022685 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2003 2012
dbSNP: rs201286421
rs201286421
0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2008 2017
dbSNP: rs730881832
rs730881832
0.925 0.120 1 45333168 missense variant A/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2003 2016