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: rs762679
rs762679 		8 47972876 missense variant T/A snv 0.87 0.88
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs762679
rs762679 		8 47972876 missense variant T/A snv 0.87 0.88
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs762679
rs762679 		8 47972876 missense variant T/A snv 0.87 0.88
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs762679
rs762679 		8 47972876 missense variant T/A snv 0.87 0.88
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs1563829725
rs1563829725 		1.000 0.040 8 47961514 splice acceptor variant A/G snv
CUI: C1864947
Disease: Natural Killer Cell Deficiency, Familial Isolated
Natural Killer Cell Deficiency, Familial Isolated 		Immune System Diseases 0.700 0
dbSNP: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1372047743
rs1372047743 		8 47960120 missense variant C/T snv 9.7E-06
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs2305952
rs2305952 		1.000 0.080 8 47962049 splice region variant A/G snv 9.9E-03 3.5E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016