CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
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: rs505102
rs505102 		1 196650372 upstream gene variant T/C snv 0.40
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs505102
rs505102 		1 196650372 upstream gene variant T/C snv 0.40
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.040 1.000 4 2006 2019
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.020 1.000 2 2008 2009
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.700 1.000 1 2012 2012
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C2699419
Disease: Complement C3 Measurement
Complement C3 Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3753394
rs3753394 		0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1553270437
rs1553270437 		1.000 1 196652175 missense variant G/A snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs7524776
rs7524776 		1.000 0.040 1 196654207 intron variant T/C snv 0.15
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11390840
rs11390840 		1 196662874 intron variant -/A;AA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6680396
rs6680396 		1.000 0.040 1 196663340 intron variant A/G snv 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6680396
rs6680396 		1.000 0.040 1 196663340 intron variant A/G 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: rs6680396
rs6680396 		1.000 0.040 1 196663340 intron variant A/G snv 0.22
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs529825
rs529825 		1.000 0.040 1 196665976 intron variant G/A snv 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2013 2015
dbSNP: rs529825
rs529825 		1.000 0.040 1 196665976 intron variant G/A snv 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs551397
rs551397 		1.000 0.040 1 196672942 intron variant C/T snv 0.31 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.030 1.000 3 2008 2018
dbSNP: rs796052137
rs796052137 		1.000 1 196673000 frameshift variant GAAA/- delins
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs757785149
rs757785149 		1.000 0.040 1 196673076 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs976333015
rs976333015 		0.882 0.200 1 196673077 missense variant G/A;T snv
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs976333015
rs976333015 		0.882 0.200 1 196673077 missense variant G/A;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs976333015
rs976333015 		0.882 0.200 1 196673077 missense variant G/A;T snv
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
Membranoproliferative Glomerulonephritis, Type II 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.900 0.980 51 2005 2019
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.100 1.000 12 2008 2017
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 10 2008 2018
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.740 1.000 5 2014 2017