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: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535 		0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502 		0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502 		0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502 		0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779848635
rs779848635 		0.925 0.080 10 121565562 missense variant C/A;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779848635
rs779848635 		0.925 0.080 10 121565562 missense variant C/A;T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779848635
rs779848635 		0.925 0.080 10 121565562 missense variant C/A;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs779848635
rs779848635 		0.925 0.080 10 121565562 missense variant C/A;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519043
rs1057519043 		0.851 0.120 10 121517391 missense variant C/A;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2018 2018
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: rs121918502
rs121918502 		0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2981575
rs2981575 		0.882 0.120 10 121586602 intron variant G/A snv 0.54
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2981575
rs2981575 		0.882 0.120 10 121586602 intron variant G/A snv 0.54
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs2981582
rs2981582 		0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		Neoplasms; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
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: rs10510097
rs10510097 		1.000 0.080 10 121568362 intron variant C/T snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2017 2017
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
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: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1219648
rs1219648 		0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
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