CHRD, chordin, 8646

N. diseases: 18; N. variants: 2
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: rs1208732776
rs1208732776 		1.000 0.120 3 184378252 missense variant G/A snv 7.0E-06
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1293657674
rs1293657674 		0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs1293657674
rs1293657674 		0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 < 0.001 1 2000 2000
dbSNP: rs1293657674
rs1293657674 		0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2000 2000