Disease: Recurrent pneumonia ×
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: rs1060499679
rs1060499679 		0.851 0.280 12 101770496 inframe deletion GTG/- delins
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs112543062
rs112543062 		0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1555269154
rs1555269154 		0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs750240374
rs750240374 		0.882 0.240 12 101766103 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		Infections; Respiratory Tract Diseases 0.700 0