CALR, calreticulin, 811

N. diseases: 487; N. variants: 9
Disease: THROMBOCYTHEMIA 1 ×
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: rs1555760738
rs1555760738 		0.925 0.040 19 12943751 splice donor variant CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- delins
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.700 0