MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
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: rs36053993
rs36053993
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs3219489
rs3219489
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs529008617
rs529008617
0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs587780749
rs587780749
0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs754155145
rs754155145
0.925 0.120 1 45332773 missense variant C/A;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs763693540
rs763693540
1.000 0.080 1 45333573 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs863224501
rs863224501
0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2012 2012