CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Age related macular degeneration ×
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: 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: 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: 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: 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: 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: 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