CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
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: rs10922153
rs10922153 		1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 3 2010 2013
dbSNP: rs191281603
rs191281603 		0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2016 2018
dbSNP: rs10922152
rs10922152 		1.000 0.040 1 196993876 intron variant T/A snv 0.38
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2010 2013
dbSNP: rs12755054
rs12755054 		1.000 0.040 1 196977900 intron variant T/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2013 2013
dbSNP: rs10801582
rs10801582 		1 196975227 upstream gene variant G/A snv 0.22
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs10801582
rs10801582 		1 196975227 upstream gene variant G/A snv 0.22
CUI: C0523688
Disease: Hemopexin measurement
Hemopexin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12116643
rs12116643 		1 197004053 intron variant T/C snv 0.19
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2013 2013
dbSNP: rs12116643
rs12116643 		1 197004053 intron variant T/C snv 0.19
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs12116643
rs12116643 		1 197004053 intron variant T/C snv 0.19
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12755054
rs12755054 		1.000 0.040 1 196977900 intron variant T/A;C snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1750311
rs1750311 		1.000 0.040 1 196985095 intron variant C/A snv 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1750311
rs1750311 		1.000 0.040 1 196985095 intron variant C/A snv 0.43
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1759016
rs1759016 		1.000 0.040 1 196983368 intron variant C/T snv 0.43
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1759016
rs1759016 		1.000 0.040 1 196983368 intron variant C/T snv 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs191281603
rs191281603 		0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603 		0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603 		0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs35662416
rs35662416 		1 196998224 missense variant G/A snv 1.6E-02 1.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs147488267
rs147488267 		1.000 0.080 1 196995756 missense variant A/G;T snv 6.8E-05; 1.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs368209619
rs368209619 		1.000 1 196995786 frameshift variant A/- delins
CUI: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		0.700 0
dbSNP: rs565457964
rs565457964 		1.000 1 196994128 frameshift variant -/A;AA delins 2.0E-03; 6.3E-03
CUI: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		0.700 0
dbSNP: rs751010317
rs751010317 		1.000 1 196998150 stop gained C/A snv 1.2E-04 2.1E-05
CUI: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		0.700 0
dbSNP: rs57960694
rs57960694 		1 196994083 missense variant G/A snv 1.1E-02 3.6E-02
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017