MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
Disease: Glioma ×
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: rs12917
rs12917 		0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.040 1.000 4 2009 2018
dbSNP: rs10764901
rs10764901 		1.000 0.040 10 129716598 intron variant A/G snv 0.62
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs16906252
rs16906252 		0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2308321
rs2308321 		0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs34180180
rs34180180 		1.000 0.040 10 129466848 upstream gene variant G/A snv 4.8E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs773919809
rs773919809 		0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2013 2013