FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Disease: Chorea ×
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: rs878853280
rs878853280 		1.000 9 109137529 stop gained G/A snv
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281 		1.000 9 109141360 stop gained C/T snv 4.0E-06
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282 		1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs878853283
rs878853283 		1.000 9 109149675 frameshift variant -/T delins
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016