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: 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