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: 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: 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: 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: 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: 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: 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: 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: rs3135718
rs3135718 		0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		0.700 1.000 1 2016 2016
dbSNP: rs3135724
rs3135724 		1.000 0.080 10 121592706 intron variant C/G;T snv
CUI: C1516974
Disease: Estrogen Receptor Status - Clinical Trial Eligibility Criteria
Estrogen Receptor Status - Clinical Trial Eligibility Criteria 		0.700 1.000 1 2016 2016
dbSNP: rs387906677
rs387906677 		1.000 10 121515232 missense variant A/C snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.800 1.000 1 2012 2012
dbSNP: rs387906678
rs387906678 		0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.800 1.000 1 2012 2012
dbSNP: rs4752569
rs4752569 		10 121572176 intron variant A/G;T snv
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1057519044
rs1057519044 		0.752 0.440 10 121517390 missense variant C/T snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.700 0
dbSNP: rs121913478
rs121913478 		0.708 0.640 10 121515280 missense variant T/C snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.700 0