MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Pilomatrixoma ×
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: rs140342925
rs140342925 		0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0
dbSNP: rs34612342
rs34612342 		0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0
dbSNP: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0
dbSNP: rs372267274
rs372267274 		0.882 0.120 1 45333171 splice acceptor variant C/G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0
dbSNP: rs587780088
rs587780088 		0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0
dbSNP: rs587781628
rs587781628 		0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		Neoplasms 0.700 0