IRF5, interferon regulatory factor 5, 3663

N. diseases: 226; N. variants: 15
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: rs10954214
rs10954214 		0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2004640
rs2004640 		0.662 0.520 7 128938247 splice donor variant T/G snv 0.52
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.090 0.889 9 2009 2017
dbSNP: rs10954213
rs10954213 		0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010