B2M, beta-2-microglobulin, 567

N. diseases: 352; N. variants: 6
Disease: Amyloidosis, familial visceral ×
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: rs398122820
rs398122820 		0.790 0.240 15 44715641 missense variant G/A snv
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012