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: rs140342925
rs140342925
MUTYH
0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 30 2002 2017
dbSNP: rs587782228
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 29 2002 2017
dbSNP: rs374950566
rs374950566
MUTYH
1.000 0.120 1 45332215 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 23 2002 2016
dbSNP: rs150792276
rs150792276
MUTYH
1.000 0.120 1 45331467 missense variant G/A snv 8.2E-04 8.0E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs200872702
rs200872702
MUTYH
1.000 0.120 1 45332597 missense variant T/C snv 2.2E-04 8.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs533899702
rs533899702
MUTYH
1.000 0.120 1 45332785 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs587782263
rs587782263
MUTYH
1.000 0.120 1 45331193 missense variant C/A;T snv 3.6E-05 6.3E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs768553551
rs768553551
MUTYH
1.000 0.120 1 45332617 missense variant C/T snv 8.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs777184451
rs777184451
MUTYH
1.000 0.120 1 45332952 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 22 2002 2017
dbSNP: rs587778541
rs587778541
MUTYH
0.925 0.120 1 45331219 inframe deletion CCT/- delins 9.5E-05 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 20 2003 2015
dbSNP: rs769237459
rs769237459
MUTYH
1.000 0.120 1 45332279 missense variant G/A snv 8.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 20 2002 2017
dbSNP: rs876659676
rs876659676
MUTYH
1.000 0.120 1 45332252 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 17 2002 2016
dbSNP: rs747993448
rs747993448
MUTYH
1.000 0.120 1 45332795 missense variant G/A snv 4.0E-06 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 16 2004 2017
dbSNP: rs754155145
rs754155145
MUTYH
0.925 0.120 1 45332773 missense variant C/A;T snv 4.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 15 2002 2016
dbSNP: rs79777494
rs79777494
MUTYH
0.882 0.120 1 45334495 missense variant G/A snv 1.1E-03 4.9E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 15 2002 2016
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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 1.000 14 2004 2017
dbSNP: rs121908381
rs121908381
MUTYH
0.925 0.120 1 45331220 stop gained C/A snv 5.2E-05 7.0E-06
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 13 2002 2017
dbSNP: rs372267274
rs372267274
MUTYH
0.882 0.120 1 45333171 splice acceptor variant C/G;T snv
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 11 1987 2014
dbSNP: rs587778536
rs587778536
MUTYH
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 11 2003 2013
dbSNP: rs768130289
rs768130289
MUTYH
1.000 0.120 1 45331746 frameshift variant GG/-;G;GGG delins
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 11 2001 2015
dbSNP: rs1553125766
rs1553125766
MUTYH
1.000 0.120 1 45331474 frameshift variant TTC/G delins
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 10 1998 2015
dbSNP: rs587783057
rs587783057
MUTYH
0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 10 2005 2015
dbSNP: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 9 2004 2015
dbSNP: rs138775799
rs138775799
MUTYH
0.925 0.120 1 45333472 stop gained G/A snv 1.2E-05 3.5E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 8 2003 2010
dbSNP: rs1060501346
rs1060501346
MUTYH
1.000 0.120 1 45332457 missense variant C/T snv 2.8E-05
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.700 1.000 7 2004 2016