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: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs74597325
rs74597325
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0