DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Squamous cell carcinoma of the head and neck ×

Gene: EGFR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121913433

EGFR

1.000

0.040

55174771

missense variant

A/G

snv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2010

2014

dbSNP:

rs1057519887

EGFR

0.925

0.040

55154128

missense variant

GC/AA;AT

mnv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2016

dbSNP:

rs149840192

EGFR

0.807

0.080

55154129

missense variant

C/A;T

snv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2016

dbSNP:

rs769696078

EGFR

0.925

0.040

55154128

missense variant

G/A

snv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2016