SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Disease: X-Linked Lymphoproliferative Disorder ×
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: 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