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: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.900 0.936 218 2005 2019
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: rs1410996
rs1410996 		0.807 0.240 1 196727803 intron variant G/A snv 0.46
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.900 0.929 14 2007 2019
dbSNP: rs1329428
rs1329428 		0.807 0.160 1 196733680 intron variant C/T snv 0.44
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.830 1.000 6 2006 2019
dbSNP: rs380390
rs380390 		0.925 0.160 1 196731921 intron variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 4 2005 2013
dbSNP: rs1061147
rs1061147 		1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 2 2007 2013
dbSNP: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.800 0.950 20 2005 2018
dbSNP: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.800 1.000 5 2003 2015
dbSNP: rs10737680
rs10737680 		0.827 0.080 1 196710325 intron variant A/C snv 0.44
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 4 2010 2013
dbSNP: rs10801555
rs10801555 		1.000 0.040 1 196691131 intron variant A/G snv 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 4 2011 2013
dbSNP: rs10733086
rs10733086 		1.000 0.040 1 196707805 intron variant A/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 3 2013 2018
dbSNP: rs121913051
rs121913051 		1.000 1 196747260 stop gained C/G;T snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 2 2009 2010
dbSNP: rs121913055
rs121913055 		1.000 1 196747183 missense variant T/G snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 2 2009 2010
dbSNP: rs1329424
rs1329424 		1.000 0.040 1 196677046 non coding transcript exon variant T/G snv 0.66
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 2 2010 2013
dbSNP: rs1831282
rs1831282 		1.000 0.040 1 196704863 intron variant A/C snv 0.62
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.800 1.000 2 2013 2013
dbSNP: rs460897
rs460897 		0.925 0.120 1 196747189 missense variant C/T snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 2 2009 2010
dbSNP: rs6677604
rs6677604 		0.827 0.200 1 196717788 intron variant G/A snv 0.23
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2011 2011
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.800 1.000 1 2013 2013
dbSNP: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.800 0
dbSNP: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.760 1.000 7 2006 2018
dbSNP: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.760 1.000 7 2015 2018
dbSNP: rs6677604
rs6677604 		0.827 0.200 1 196717788 intron variant G/A snv 0.23
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.750 1.000 6 2014 2020
dbSNP: rs460897
rs460897 		0.925 0.120 1 196747189 missense variant C/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 0.750 1.000 5 2006 2010
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
dbSNP: rs460184
rs460184 		0.925 0.120 1 196747207 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.730 1.000 3 2006 2019