CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
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: rs115253693
rs115253693 		16 67053504 intron variant T/C snv 0.15
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs140538758
rs140538758 		1.000 16 67082698 intron variant C/G snv 1.5E-02
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.700 1.000 1 2019 2019
dbSNP: rs73593330
rs73593330 		16 67096320 intron variant A/T snv 6.1E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs73593330
rs73593330 		16 67096320 intron variant A/T snv 6.1E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs1280921900
rs1280921900 		1.000 0.080 16 67066697 missense variant C/G snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0