FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Source: CURATED ×
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: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.740 1.000 5 2009 2017
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 4 2007 2018
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 3 2007 2018
dbSNP: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.740 1.000 3 2009 2017
dbSNP: rs2420946
rs2420946 		0.851 0.160 10 121591810 intron variant T/C snv 0.56
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 2 2007 2017
dbSNP: rs2981578
rs2981578 		0.925 0.080 10 121580797 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.790 0.909 2 2007 2018
dbSNP: rs2981578
rs2981578 		0.925 0.080 10 121580797 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.790 0.909 2 2009 2018
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0.972 2 2007 2019
dbSNP: rs10510097
rs10510097 		1.000 0.080 10 121568362 intron variant C/T snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10736303
rs10736303 		0.882 0.120 10 121574943 intron variant G/A snv 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2007 2012
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 1 2012 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0346163
Disease: Endometrioid carcinoma ovary
Endometrioid carcinoma ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016