NOTCH4, notch receptor 4, 4855

N. diseases: 150; N. variants: 58
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: rs3131296
rs3131296 		0.807 0.320 6 32205216 intron variant C/T snv 0.11
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: rs3134942
rs3134942 		0.790 0.320 6 32200994 synonymous variant G/T snv 9.7E-02 0.11
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: rs8192591
rs8192591 		0.882 0.160 6 32218019 missense variant C/T snv 2.5E-02 2.2E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012