B2M, beta-2-microglobulin, 567

N. diseases: 352; N. variants: 6
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: rs104894481
rs104894481
1.000 0.080 15 44711577 missense variant G/C;T snv 4.0E-06
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2006 2006
dbSNP: rs863225287
rs863225287
1.000 0.080 15 44711614 splice donor variant G/T snv
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0