MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Lupus Erythematosus, Systemic ×
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: rs1734787
rs1734787 		1.000 0.080 X 154059995 non coding transcript exon variant A/C snv 0.17
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 0.500 2 2015 2015
dbSNP: rs2075596
rs2075596 		1.000 0.080 X 154031941 intron variant A/C;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2013 2015
dbSNP: rs2239464
rs2239464 		0.925 0.120 X 154082978 intron variant G/A snv 0.34
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2013 2015
dbSNP: rs1734791
rs1734791 		1.000 0.080 X 154065469 intron variant A/T snv 0.22
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1734792
rs1734792 		1.000 0.080 X 154075609 intron variant C/A snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs17435
rs17435 		0.851 0.200 X 154046529 intron variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015