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: rs1557083958
rs1557083958
1.000 0.080 X 49075363 splice donor variant C/G;T snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2012 2017
dbSNP: rs387907329
rs387907329
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2012 2019
dbSNP: rs1557084491
rs1557084491
1.000 0.080 X 49077749 splice acceptor variant T/C snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs797046102
rs797046102
1.000 0.080 X 49075865 splice donor variant C/A;T snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs864309661
rs864309661
1.000 0.080 X 49077715 inframe deletion CCA/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2013
dbSNP: rs1569523502
rs1569523502
1.000 0.080 X 49076450 inframe deletion TCAAAC/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs782557596
rs782557596
1.000 0.080 X 49075239 stop gained G/A;C snv 2.7E-05 1.9E-05
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs797046101
rs797046101
0.851 0.280 X 49076469 stop gained G/A snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs886041382
rs886041382
0.925 0.080 X 49078077 stop gained G/A snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057519622
rs1057519622
1.000 0.080 X 49078038 splice donor variant AC/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557083830
rs1557083830
1.000 0.080 X 49074913 splice acceptor variant C/T snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557083878
rs1557083878
1.000 0.080 X 49075157 frameshift variant -/GG delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557084113
rs1557084113
1.000 0.080 X 49075863 splice region variant CAC/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557084239
rs1557084239
1.000 0.080 X 49076457 frameshift variant -/A delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569523468
rs1569523468
1.000 0.080 X 49075612 frameshift variant AG/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569523537
rs1569523537
1.000 0.080 X 49077664 stop gained -/ACTA delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569523565
rs1569523565
1.000 0.080 X 49078094 start lost A/T snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907328
rs387907328
1.000 0.080 X 49074881 frameshift variant AT/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907330
rs387907330
1.000 0.080 X 49075866 splice region variant C/G snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907331
rs387907331
1.000 0.080 X 49076431 frameshift variant -/T delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387907332
rs387907332
1.000 0.080 X 49075636 stop gained G/A snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797046100
rs797046100
1.000 0.080 X 49074856 missense variant T/C snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797046103
rs797046103
1.000 0.080 X 49075361 splice donor variant AC/- delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797046105
rs797046105
1.000 0.080 X 49075142 frameshift variant -/A delins
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs869312661
rs869312661
0.925 0.160 X 49075135 splice donor variant C/T snv
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0