Disease: Hamman-Rich 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: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 1.000 16 2005 2014
dbSNP: rs876657633
rs876657633 		1.000 0.120 16 2300001 splice donor variant GCACCTT/TGG delins
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 1.000 2 2008 2014