FGF5, fibroblast growth factor 5, 2250

N. diseases: 56; N. variants: 8
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: rs587777581
rs587777581 		4 80286385 missense variant T/C;G snv 8.0E-06
CUI: C0854699
Disease: Trichomegaly
Trichomegaly 		Skin and Connective Tissue Diseases 0.800 1.000 1 2014 2014
dbSNP: rs17004869
rs17004869 		4 80283879 intron variant A/T snv 4.6E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs1458046
rs1458046 		4 80278812 intron variant G/A snv 0.52
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs17004869
rs17004869 		4 80283879 intron variant A/T snv 4.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17004869
rs17004869 		4 80283879 intron variant A/T snv 4.6E-02
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17004869
rs17004869 		4 80283879 intron variant A/T snv 4.6E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4690116
rs4690116 		0.807 0.080 4 80285223 intron variant T/A snv 0.59
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6811219
rs6811219 		1.000 0.080 4 80330044 intron variant C/T snv 0.82
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7680591
rs7680591 		0.807 0.080 4 80276795 intron variant T/A snv 0.58
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587777579
rs587777579 		4 80275013 splice donor variant G/- del 4.3E-06
CUI: C0854699
Disease: Trichomegaly
Trichomegaly 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777580
rs587777580 		4 80266983 frameshift variant AT/- delins
CUI: C0854699
Disease: Trichomegaly
Trichomegaly 		Skin and Connective Tissue Diseases 0.700 0