Source: CLINVAR

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: rs74315366
rs74315366
SDHB
0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2001 2017
dbSNP: rs747993448
rs747993448
MUTYH
1.000 0.120 1 45332795 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2004 2017
dbSNP: rs764575966
rs764575966
SDHC
0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2007 2017
dbSNP: rs786203251
rs786203251
SDHB
0.882 0.080 1 17022649 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2004 2015
dbSNP: rs143353451
rs143353451
MUTYH
0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2004 2016
dbSNP: rs199822819
rs199822819
FH
0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2003 2015
dbSNP: rs200796606
rs200796606
FH
1.000 0.200 1 241502552 missense variant T/G snv 6.4E-05 4.9E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2000 2017
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2006 2017
dbSNP: rs374950566
rs374950566
MUTYH
1.000 0.120 1 45332215 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2006 2015
dbSNP: rs398122805
rs398122805
SDHB
0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2006 2018
dbSNP: rs587778541
rs587778541
MUTYH
0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2003 2017
dbSNP: rs863223966
rs863223966
FH
0.925 0.320 1 241504057 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2003 2014
dbSNP: rs121913122
rs121913122
FH
0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2002 2015
dbSNP: rs200495564
rs200495564
MUTYH
0.925 0.120 1 45332446 missense variant G/A snv 5.6E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2005 2015
dbSNP: rs397516833
rs397516833
SDHB
0.882 0.080 1 17028737 splice acceptor variant C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2004 2015
dbSNP: rs587778661
rs587778661
SDHC
0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2009 2016
dbSNP: rs587780751
rs587780751
MUTYH
0.925 0.120 1 45332163 splice region variant T/G snv 7.6E-05 1.3E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2003 2017
dbSNP: rs786201095
rs786201095
SDHB
0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2005 2017
dbSNP: rs876660190
rs876660190
MUTYH
1.000 0.120 1 45333100 protein altering variant -/ATCCAT delins 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2003 2010
dbSNP: rs200245469
rs200245469
SDHB
0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2016
dbSNP: rs34126013
rs34126013
MUTYH
0.925 0.160 1 45332458 missense variant G/A snv 6.8E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2004 2015
dbSNP: rs376790729
rs376790729
MUTYH
0.925 0.120 1 45331223 stop gained C/A;T snv 4.0E-06; 3.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2006 2015
dbSNP: rs397516835
rs397516835
SDHB
0.925 0.080 1 17024040 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1995 2013
dbSNP: rs587780088
rs587780088
MUTYH
0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2015
dbSNP: rs587780749
rs587780749
MUTYH
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2002 2014