ATG16L1, autophagy related 16 like 1, 55054

N. diseases: 120; N. variants: 31
Disease: Hamartoma Syndrome, Multiple ×
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: rs2241880
rs2241880 		0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2010 2010