CALR, calreticulin, 811

N. diseases: 487; N. variants: 9
Disease: Myeloproliferative disease ×
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: rs1378379005
rs1378379005 		19 12938723 missense variant C/G;T snv 2.1E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs147368353
rs147368353 		19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016