STAG2, stromal antigen 2, 10735

N. diseases: 132; N. variants: 8
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: rs111033623
rs111033623 		0.925 0.080 X 124365786 stop gained C/T snv
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 18 1998 2020
dbSNP: rs111033624
rs111033624 		1.000 0.080 X 124346737 missense variant G/C snv
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 1998 2006
dbSNP: rs111033626
rs111033626 		1.000 0.080 X 124370276 missense variant C/T snv
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 1998 2006
dbSNP: rs111033627
rs111033627 		1.000 0.080 X 124370177 missense variant C/T snv
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 1998 2006
dbSNP: rs111033630
rs111033630 		1.000 0.080 X 124365787 stop gained G/T snv
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 11 1998 2006
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0025289
Disease: Meningitis
Meningitis 		Nervous System Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0542571
Disease: Facial edema
Facial edema 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0014038
Disease: Encephalitis
Encephalitis 		Nervous System Diseases 0.700 0
dbSNP: rs1556620697
rs1556620697 		0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111033623
rs111033623 		0.925 0.080 X 124365786 stop gained C/T snv
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs111033623
rs111033623 		0.925 0.080 X 124365786 stop gained C/T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1212771107
rs1212771107 		1.000 0.080 X 124370315 missense variant C/T snv 5.5E-06
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2049995
rs2049995 		1.000 0.080 X 124366141 intron variant T/G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013