CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Disease: Acute Chest Syndrome ×
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: rs1883832
rs1883832 		0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2014
dbSNP: rs11086998
rs11086998 		1.000 0.120 20 46128885 missense variant C/G;T snv 2.2E-02
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 < 0.001 1 2019 2019
dbSNP: rs4810485
rs4810485 		0.732 0.480 20 46119308 intron variant T/A;G snv
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 < 0.001 1 2019 2019