FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×
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: rs121918287
rs121918287 		1.000 0.080 11 61959892 missense variant G/A snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 5 2008 2015
dbSNP: rs368387447
rs368387447 		1.000 0.080 11 61959917 missense variant T/C snv 4.8E-05 6.3E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2016 2016
dbSNP: rs752521456
rs752521456 		1.000 0.080 11 61962666 frameshift variant TG/- delins 2.0E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1554963305
rs1554963305 		1.000 0.080 11 61959899 missense variant T/C snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554964287
rs1554964287 		1.000 0.080 11 61962524 missense variant C/G snv
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs374772670
rs374772670 		0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs762398929
rs762398929 		0.925 0.080 11 61962704 stop gained C/G snv 2.0E-05
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019