Disease: Immunoglobulin a deficiency 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: rs34557412
rs34557412 		0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2005 2005
dbSNP: rs72553882
rs72553882 		0.925 0.080 17 16940465 stop gained G/C;T snv 4.0E-05
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs72553883
rs72553883 		0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0