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: 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: rs1057519038
rs1057519038
0.882 0.120 10 121520076 missense variant T/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1057519038
rs1057519038
0.882 0.120 10 121520076 missense variant T/C snv
CUI: C0039144
Disease: Syringomyelia
Syringomyelia
Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1057519043
rs1057519043
0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519854
rs1057519854
0.882 0.080 10 121488063 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2007 2007
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: rs1057520029
rs1057520029
0.925 0.120 10 121488003 missense variant T/A snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1057520029
rs1057520029
0.925 0.120 10 121488003 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs10736303
rs10736303
0.882 0.120 10 121574943 intron variant G/A snv 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10736303
rs10736303
0.882 0.120 10 121574943 intron variant G/A snv 0.40
CUI: C0024636
Disease: Malocclusion
Malocclusion
Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1078806
rs1078806
0.925 0.080 10 121579461 intron variant A/G;T snv 0.34
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1078806
rs1078806
0.925 0.080 10 121579461 intron variant A/G;T snv 0.34
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11199993
rs11199993
0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs11199993
rs11199993
0.925 0.120 10 121531750 intron variant G/C snv 4.8E-02
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11200014
rs11200014
0.695 0.280 10 121575416 intron variant G/A;T snv 0.34
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1201848305
rs1201848305
1.000 0.080 10 121503933 synonymous variant A/G snv 1.2E-05
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs121913474
rs121913474
0.790 0.200 10 121515260 missense variant A/G snv
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913476
rs121913476
0.851 0.080 10 121498520 missense variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913478
rs121913478
0.708 0.640 10 121515280 missense variant T/C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006