FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA ×
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: rs267606819
rs267606819 		1.000 0.160 1 212859173 missense variant G/A snv
CUI: C1836916
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 2 2010 2011