FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Disease: Vitelliform Macular Dystrophy ×
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: rs752125512
rs752125512 		1.000 0.080 11 61962569 frameshift variant T/- del 5.6E-05 5.6E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2011 2014
dbSNP: rs281865528
rs281865528 		1.000 0.080 11 61962622 frameshift variant CA/- delins
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2001 2007
dbSNP: rs374772670
rs374772670 		0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs563488311
rs563488311 		1.000 0.080 11 61959980 missense variant C/A;G snv 5.2E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs762398929
rs762398929 		0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019