NOTCH4, notch receptor 4, 4855

N. diseases: 150; N. variants: 58
Disease: Systemic Scleroderma ×
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: rs443198
rs443198 		0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2011
dbSNP: rs2071286
rs2071286 		0.752 0.280 6 32212119 intron variant C/T snv 0.17
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs479536
rs479536 		0.882 0.200 6 32225901 upstream gene variant G/A snv 5.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010