EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
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: rs17337023
rs17337023
1.000 0.120 7 55171181 synonymous variant T/A;G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 1.000 3 2012 2017
dbSNP: rs11543848
rs11543848
0.790 0.240 7 55161562 missense variant G/A;C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2227983
rs2227983
0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017