Source: ALL

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: rs17292650
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.020 1.000 2 2004 2013
dbSNP: rs17292650
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		0.010 1.000 1 2017 2017
dbSNP: rs17292650
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2004 2004