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: 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: rs1391815797
rs1391815797 		1.000 1 196726614 missense variant G/A snv
CUI: C2749604
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1998 2010
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: 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: 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: 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: 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: rs572515
rs572515 		0.925 0.160 1 196677131 non coding transcript exon variant A/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 4 2008 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: rs1329428
rs1329428 		0.807 0.160 1 196733680 intron variant C/T snv 0.44
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		Eye Diseases 0.030 1.000 3 2014 2016
dbSNP: rs1410996
rs1410996 		0.807 0.240 1 196727803 intron variant G/A snv 0.46
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 0.030 1.000 3 2008 2014
dbSNP: rs2019727
rs2019727 		1.000 0.040 1 196705584 intron variant T/A snv 0.24
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 3 2010 2013
dbSNP: rs203674
rs203674 		1.000 0.040 1 196715495 intron variant G/T snv 0.65
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 3 2010 2015
dbSNP: rs393955
rs393955 		0.925 0.040 1 196723340 intron variant C/A snv 0.65
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.720 1.000 3 2012 2013
dbSNP: rs6428357
rs6428357 		1.000 0.040 1 196706441 intron variant A/G snv 0.62
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 3 2011 2013
dbSNP: rs6677604
rs6677604 		0.827 0.200 1 196717788 intron variant G/A snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.720 1.000 3 2013 2013
dbSNP: rs10801553
rs10801553 		1.000 0.040 1 196686613 intron variant A/C snv 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2013 2013
dbSNP: rs12038333
rs12038333 		1.000 0.040 1 196703324 intron variant G/A snv 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2010 2013
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: rs2019724
rs2019724 		1.000 0.040 1 196705787 intron variant T/C snv 0.62
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2011 2013