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: rs121913230
rs121913230
1.000 0.040 7 55181437 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913431
rs121913431
1.000 0.040 7 55181438 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1057519847
rs1057519847
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.040 1.000 4 2013 2016
dbSNP: rs121434569
rs121434569
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.030 0.667 3 2011 2016
dbSNP: rs121913465
rs121913465
0.763 0.160 7 55181312 missense variant G/T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1389500636
rs1389500636
0.827 0.080 7 55156796 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs28929495
rs28929495
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs397517108
rs397517108
0.790 0.120 7 55181312 missense variant GC/TT mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2017 2017