Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894481
rs104894481
B2M ; PATL2
1.000 0.080 15 44711577 missense variant G/C;T snv 4.0E-06
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.800 1.000 0 2006 2006
dbSNP: rs863225287
rs863225287
B2M ; PATL2
1.000 0.080 15 44711614 splice donor variant G/T snv
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic 		0.700 0