FGFR4, fibroblast growth factor receptor 4, 2264

N. diseases: 220; N. variants: 19
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: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.780 0.900 10 2005 2017
dbSNP: rs1057519793
rs1057519793 		0.882 0.040 5 177095551 missense variant T/A snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		Neoplasms 0.710 1.000 3 2009 2019
dbSNP: rs422421
rs422421 		5 177090325 intron variant T/C snv 0.83 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2017
dbSNP: rs1057519792
rs1057519792 		1.000 0.040 5 177095415 missense variant C/A;G snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057520036
rs1057520036 		0.925 0.080 5 177093180 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1966265
rs1966265 		0.827 0.160 5 177089630 missense variant G/A;T snv 0.25
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1966265
rs1966265 		0.827 0.160 5 177089630 missense variant G/A;T snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2011077
rs2011077 		0.807 0.080 5 177094455 intron variant C/T snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs3135911
rs3135911 		1.000 0.080 5 177086895 upstream gene variant C/A snv 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs422421
rs422421 		5 177090325 intron variant T/C snv 0.83 0.79
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C4016099
Disease: CANCER PROGRESSION AND TUMOR CELL MOTILITY
CANCER PROGRESSION AND TUMOR CELL MOTILITY 		0.700 0
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.917 12 2005 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.909 11 2005 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.080 0.875 8 2005 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2004 2018
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2004 2018
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 0.500 4 2010 2013
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2007 2017
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2004 2015
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.020 1.000 2 2005 2009
dbSNP: rs351855
rs351855 		0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		0.020 1.000 2 2006 2015