Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.800 1.000 21 2007 2018
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 1.000 21 2007 2018
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs1219648
rs1219648
FGFR2
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
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2009 2014
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2008 2008
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2011 2011
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2012 2012
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		0.010 1.000 1 2014 2014
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2019 2019
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2015 2015