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: 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: 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: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 2 2007 2012
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: 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: rs35292876
rs35292876 		0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2016 2018
dbSNP: rs3753395
rs3753395 		0.882 0.120 1 196717522 intron variant A/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2013 2016
dbSNP: rs3766404
rs3766404 		1.000 0.040 1 196682702 intron variant T/C snv 0.22
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2013 2019
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: 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: rs145975787
rs145975787 		1.000 1 196740703 missense variant C/T snv 1.3E-03 1.3E-03
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: rs575109631
rs575109631 		0.925 0.200 1 196745862 missense variant A/G snv 4.0E-06
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 0.700 1.000 8 1997 2006
dbSNP: rs62625015
rs62625015 		1.000 0.160 1 196743544 missense variant C/G snv 3.9E-04 2.4E-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 0.700 1.000 8 1997 2006
dbSNP: rs761877050
rs761877050 		1.000 1 196747198 missense variant G/A snv 1.2E-05 7.0E-06
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: rs762443267
rs762443267 		1.000 1 196736958 missense variant G/A snv 4.0E-06
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: rs777049051
rs777049051 		1.000 1 196740687 missense variant T/C snv 1.2E-05 2.1E-05
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: 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: 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: 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: 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
dbSNP: rs203687
rs203687 		1.000 0.040 1 196705140 intron variant C/T snv 0.71
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2013 2013
dbSNP: rs379489
rs379489 		0.851 0.200 1 196724321 intron variant A/G snv 0.65
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2011 2013
dbSNP: rs395544
rs395544 		1.000 0.040 1 196729142 intron variant A/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2013 2013
dbSNP: rs403846
rs403846 		1.000 0.040 1 196727607 intron variant T/C snv 0.67
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 2 2013 2013