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: rs121918490
rs121918490 		0.851 0.080 10 121517342 missense variant G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 26 1985 2017
dbSNP: rs121918490
rs121918490 		0.851 0.080 10 121517342 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1985 2017
dbSNP: rs1554928978
rs1554928978 		1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1985 2017
dbSNP: rs121913476
rs121913476 		0.851 0.080 10 121498520 missense variant A/C;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 4 2008 2013
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: rs79184941
rs79184941 		0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 3 2008 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: 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: rs1057519045
rs1057519045 		0.851 0.160 10 121498522 missense variant T/G snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519795
rs1057519795 		1.000 10 121488002 missense variant T/C snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519796
rs1057519796 		1.000 10 121496546 missense variant A/T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519797
rs1057519797 		1.000 10 121496705 missense variant C/T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519798
rs1057519798 		1.000 10 121498528 missense variant T/C snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519799
rs1057519799 		1.000 10 121498556 missense variant C/A;G;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519800
rs1057519800 		1.000 10 121498562 missense variant C/A;G;T snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057520029
rs1057520029 		0.925 0.120 10 121488003 missense variant T/A snv
CUI: C4016282
Disease: BREAST CANCER, SOMATIC
BREAST CANCER, SOMATIC 		0.010 1.000 1 2013 2013
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: 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: 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: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs121918506
rs121918506 		0.882 0.080 10 121496701 missense variant T/C;G snv
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		0.700 1.000 1 2013 2013
dbSNP: rs1219648
rs1219648 		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 		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: rs2981579
rs2981579 		0.776 0.280 10 121577821 intron variant A/G snv 0.53
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.700 1.000 1 2017 2017
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2013 2013