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: rs112120857
rs112120857 		1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1188975135
rs1188975135 		0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1188975135
rs1188975135 		0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1188975135
rs1188975135 		0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1188975135
rs1188975135 		0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2017 2017
dbSNP: rs2076101
rs2076101 		0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2076101
rs2076101 		0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2016 2016
dbSNP: rs2076101
rs2076101 		0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016