FGF2, fibroblast growth factor 2, 2247

N. diseases: 635; N. variants: 7
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: rs1405250454
rs1405250454
1.000 0.080 4 122827283 frameshift variant G/- delins 4.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1449683
rs1449683
0.925 0.080 4 122826931 synonymous variant C/G;T snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1449683
rs1449683
0.925 0.080 4 122826931 synonymous variant C/G;T snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10518406
rs10518406
4 122841742 intron variant A/G snv 4.2E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2015 2015
dbSNP: rs167428
rs167428
1.000 0.080 4 122852284 intron variant T/C snv 0.42
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs308442
rs308442
1.000 0.080 4 122853758 intron variant T/A snv 0.46
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs308379
rs308379
1.000 0.080 4 122861741 intron variant A/T snv 0.68
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs308379
rs308379
1.000 0.080 4 122861741 intron variant A/T snv 0.68
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs308403
rs308403
4 122836593 intron variant C/T snv 0.43
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019