FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 665; N. variants: 90
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: rs2981582
rs2981582
0.801 0.143 10 121592803 intron variant A/G snp 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.900 0.962 28 2007 2017
dbSNP: rs77543610
rs77543610
0.724 0.071 10 121520160 missense variant G/C snp
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 1.000 23 1995 2015
dbSNP: rs79184941
rs79184941
0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 1.000 22 1995 2016
dbSNP: rs1219648
rs1219648
0.769 0.179 10 121586676 intron variant A/G,T snp 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.900 0.938 20 2007 2016
dbSNP: rs2981578
rs2981578
0.923 0.071 10 121580797 intron variant C/A,T snp 2.3E-03; 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.860 0.833 9 2007 2018
dbSNP: rs2981579
rs2981579
0.801 0.107 10 121577821 intron variant A/G snp 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.840 1.000 9 2009 2016
dbSNP: rs121918499
rs121918499
0.923 0.143 10 121520048 missense variant C/A,G snp
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.830 1.000 7 1997 2011
dbSNP: rs3750817
rs3750817
0.878 0.071 10 121573063 intron variant C/G,T snp 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.820 1.000 2 2010 2013
dbSNP: rs121913478
rs121913478
0.756 0.321 10 121515280 missense variant T/C snp
Cutis Gyrata Syndrome of Beare And Stevenson
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 5 1996 2007
dbSNP: rs121918492
rs121918492
0.878 0.071 10 121517372 missense variant G/C snp
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 4 1995 1995
dbSNP: rs121913477
rs121913477
1.000 0.107 10 121515289 missense variant G/C,T snp
Cutis Gyrata Syndrome of Beare And Stevenson
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases 0.810 1.000 2 1996 2008
dbSNP: rs121918498
rs121918498
0.846 0.071 10 121520162 missense variant CG/AA multinucleotide-polymorphism
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 1997 1999
dbSNP: rs2981575
rs2981575
0.923 0.071 10 121586602 intron variant G/A snp 0.55
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 2 2007 2011
dbSNP: rs121918502
rs121918502
0.878 0.107 10 121517351 stop gained G/C snp
Antley-Bixler Syndrome, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases 0.800 9 1993 2005
dbSNP: rs121918488
rs121918488
0.801 0.107 10 121517379 missense variant A/C,G,T snp
Antley-Bixler Syndrome, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases 0.800 6 1995 2016
dbSNP: rs121918488
rs121918488
0.801 0.107 10 121517379 missense variant A/C,G,T snp
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 6 1995 2016
dbSNP: rs121918507
rs121918507
0.878 0.250 10 121498591 missense variant T/C snp
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases 0.800 3 2005 2007
dbSNP: rs121918497
rs121918497
0.878 0.071 10 121520052 stop lost T/G snp
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 2 1995 1996
dbSNP: rs121918509
rs121918509
1.000 0.250 10 121488095 missense variant C/T snp
Lacrimoauriculodentodigital syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases 0.800 2 2006 2008
dbSNP: rs2912774
rs2912774
1.000 0.071 10 121589148 intron variant T/A,G snp 3.5E-03; 0.55
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.800 2 2007 2015
dbSNP: rs387906678
rs387906678
0.846 0.107 10 121515263 missense variant A/C,G snp
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
0.800 2 2012 2014
dbSNP: rs121918508
rs121918508
1.000 0.250 10 121488035 missense variant C/T snp
Lacrimoauriculodentodigital syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases 0.800 1 2006 2006
dbSNP: rs3135753
rs3135753
1.000 0.107 10 121521144 intron variant T/C snp 5.2E-03
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases 0.800 1 2013 2013
dbSNP: rs387906677
rs387906677
1.000 10 121515232 missense variant A/C snp
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
0.800 1 2012 2012
dbSNP: rs2420946
rs2420946
0.923 0.071 10 121591810 intron variant T/C snp 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.760 1.000 8 2007 2013