MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs769237459
rs769237459 		1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2005 2016
dbSNP: rs876659676
rs876659676 		1.000 0.120 1 45332252 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2006 2015
dbSNP: rs372267274
rs372267274 		0.882 0.120 1 45333171 splice acceptor variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2003 2013
dbSNP: rs765123255
rs765123255 		0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2009 2017
dbSNP: rs121908380
rs121908380 		0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2002 2017
dbSNP: rs587781628
rs587781628 		0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2004 2011
dbSNP: rs786203115
rs786203115 		0.925 0.120 1 45332300 stop gained G/A snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2007 2015
dbSNP: rs199989617
rs199989617 		1.000 0.120 1 45332574 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2008 2015
dbSNP: rs376561094
rs376561094 		1.000 0.120 1 45332636 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2006 2009
dbSNP: rs1553125243
rs1553125243 		1.000 0.120 1 45331302 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2007 2017
dbSNP: rs1553136984
rs1553136984 		1 45340218 splice donor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2007
dbSNP: rs587781338
rs587781338 		1.000 0.120 1 45332080 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2005 2014
dbSNP: rs748170941
rs748170941 		1.000 0.120 1 45333452 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2005 2015
dbSNP: rs762307622
rs762307622 		1.000 0.120 1 45332955 stop gained C/A;T snv 5.6E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2017
dbSNP: rs864621967
rs864621967 		1 45331176 splice donor variant AGTGCCT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2001 2002
dbSNP: rs864622450
rs864622450 		1 45333158 missense variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2009 2010
dbSNP: rs1553125075
rs1553125075 		1 45331255 frameshift variant TG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2001 2001
dbSNP: rs1553130185
rs1553130185 		1.000 0.120 1 45333453 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs587781864
rs587781864 		1 45332791 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs745921592
rs745921592 		1.000 0.120 1 45332678 stop gained C/A snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs768130289
rs768130289 		1.000 0.120 1 45331746 frameshift variant GG/-;G;GGG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2006 2006
dbSNP: rs776362892
rs776362892 		1 45332057 frameshift variant C/- delins 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2003 2003
dbSNP: rs1057517457
rs1057517457 		0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060501346
rs1060501346 		1.000 0.120 1 45332457 missense variant C/T snv 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1114167685
rs1114167685 		1 45331722 stop gained A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0