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: rs1554927408
rs1554927408 		0.742 0.480 10 121515254 missense variant C/T snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		Neoplasms 0.010 1.000 1 2017 2017
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
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: rs35054928
rs35054928 		0.851 0.080 10 121580918 intron variant C/- delins
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs35054928
rs35054928 		0.851 0.080 10 121580918 intron variant C/- delins
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs45631563
rs45631563 		1.000 0.080 10 121589810 intron variant A/T snv 3.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: rs7090018
rs7090018 		1.000 0.040 10 121509375 intron variant T/G snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs77543610
rs77543610 		0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs776587763
rs776587763 		0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2017 2017
dbSNP: rs777169135
rs777169135 		0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs777169135
rs777169135 		0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
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 2017 2017
dbSNP: rs777169135
rs777169135 		0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs35054928
rs35054928 		0.851 0.080 10 121580918 intron variant C/- delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2016 2017
dbSNP: rs1057519045
rs1057519045 		0.851 0.160 10 121498522 missense variant T/G snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045 		0.851 0.160 10 121498522 missense variant T/G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045 		0.851 0.160 10 121498522 missense variant T/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519045
rs1057519045 		0.851 0.160 10 121498522 missense variant T/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854 		0.882 0.080 10 121488063 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854 		0.882 0.080 10 121488063 missense variant A/T snv
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854 		0.882 0.080 10 121488063 missense variant A/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519854
rs1057519854 		0.882 0.080 10 121488063 missense variant A/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519900
rs1057519900 		0.882 0.120 10 121515259 missense variant C/T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519900
rs1057519900 		0.882 0.120 10 121515259 missense variant C/T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519900
rs1057519900 		0.882 0.120 10 121515259 missense variant C/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016