FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: 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 36 2007 2019
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0.971 35 2007 2019
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 25 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 24 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 11 2009 2018
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 11 2007 2018
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 9 2007 2017
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 9 2009 2017
dbSNP: rs2420946
rs2420946 		0.851 0.160 10 121591810 intron variant T/C snv 0.56
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 8 2009 2017
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 7 2009 2017
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 3 2012 2016
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2009 2012
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2012 2016
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 2 2007 2012
dbSNP: rs11200014
rs11200014 		0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2013 2016
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2009 2014
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2014
dbSNP: rs2981575
rs2981575 		0.882 0.120 10 121586602 intron variant G/A snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2007 2010
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2011 2013
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2018
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2012 2019
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2012 2019
dbSNP: rs35054928
rs35054928 		0.851 0.080 10 121580918 intron variant C/- delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2016 2017