FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
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: 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: rs17156609
rs17156609 		11 61964505 3 prime UTR variant G/A;C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1800009
rs1800009 		11 61962762 synonymous variant T/C snv 0.46 0.43
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs195156
rs195156 		11 61961591 non coding transcript exon variant C/T snv 0.81
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs195157
rs195157 		11 61960319 non coding transcript exon variant G/A snv 0.80
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: 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: rs387906549
rs387906549 		1.000 0.040 11 61967589 5 prime UTR variant T/A snv
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant 		Nutritional and Metabolic 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: rs1415568768
rs1415568768 		1.000 0.080 11 61965454 missense variant T/C snv 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
dbSNP: rs374772670
rs374772670 		0.882 0.160 11 61962313 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
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: 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: 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: rs749448206
rs749448206 		1.000 0.080 11 61962866 missense variant T/C snv 1.6E-05 3.5E-05
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
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
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