TNXB, tenascin XB, 7148

N. diseases: 127; N. variants: 79
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: rs1150754
rs1150754 		0.851 0.200 6 32082981 intron variant C/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.810 1.000 2 2011 2017
dbSNP: rs3130342
rs3130342 		1.000 0.080 6 32112369 non coding transcript exon variant A/C;G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs1150757
rs1150757 		0.925 0.160 6 32061428 synonymous variant G/A;C snv 5.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs1150753
rs1150753 		0.925 0.120 6 32092090 intron variant A/G snv 6.3E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1150755
rs1150755 		1.000 0.080 6 32070773 intron variant C/T snv 0.10
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs185819
rs185819 		0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2269426
rs2269426 		0.807 0.280 6 32108722 intron variant G/A snv 0.35
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs8283
rs8283 		0.882 0.120 6 32115523 3 prime UTR variant A/G snv 0.25
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009