FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Disease: Drusen ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148060787
rs148060787
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C1260959
Disease:
Drusen 		0.010 GeneticVariation BEFREE These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K). 11713080 2001