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: 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: rs1554928978
rs1554928978 		1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 26 1985 2017
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: rs1057520027
rs1057520027 		10 121488005 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2007 2007
dbSNP: rs1057520028
rs1057520028 		10 121515283 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2007 2007
dbSNP: rs121913475
rs121913475 		10 121519989 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2014 2014
dbSNP: rs1299249877
rs1299249877 		10 121480007 stop gained G/C snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs148478597
rs148478597 		10 121479995 missense variant G/A;C snv 9.1E-05; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
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: 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: rs755793
rs755793 		10 121551357 missense variant A/G snv 4.5E-02 0.10
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs758829154
rs758829154 		10 121488028 missense variant T/C snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs868564661
rs868564661 		10 121487415 missense variant G/A snv
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs954917585
rs954917585 		10 121479973 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs281865420
rs281865420 		10 121520161 missense variant GCG/AGA mnv
CUI: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT 		0.700 0
dbSNP: rs1047100
rs1047100 		1.000 0.040 10 121538644 synonymous variant T/A;C snv 1.2E-05; 0.78
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1384270958
rs1384270958 		1.000 0.040 10 121500883 missense variant C/G snv 4.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2162540
rs2162540 		0.925 0.040 10 121592622 intron variant C/T snv 0.57
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2162540
rs2162540 		0.925 0.040 10 121592622 intron variant C/T snv 0.57
CUI: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2912759
rs2912759 		1.000 0.040 10 121510197 intron variant T/C snv 0.58
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017