Source: CURATED

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: rs1805419
rs1805419
BAX
19 48955847 intron variant A/G snv 0.67 0.66
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4645881
rs4645881
BAX
19 48955005 non coding transcript exon variant C/G;T snv 0.83
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4645881
rs4645881
BAX
19 48955005 non coding transcript exon variant C/G;T snv 0.83
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs398122513
rs398122513
BAX
1.000 0.120 19 48955799 missense variant G/A snv
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.700 0
dbSNP: rs398122840
rs398122840
BAX
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs398122840
rs398122840
BAX
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.700 0