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
dbSNP: rs267606820
rs267606820 		1.000 0.160 1 212858813 missense variant A/G snv 4.0E-06
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
dbSNP: rs267606821
rs267606821 		1.000 0.160 1 212859026 missense variant T/C snv 2.0E-05 2.8E-05
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
dbSNP: rs1558121050
rs1558121050 		1.000 0.160 1 212889209 missense variant G/C 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 0.700 0
dbSNP: rs556788423
rs556788423 		1.000 0.160 1 212883443 splice region variant G/A snv 2.4E-04 3.1E-04
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 0.700 0
dbSNP: rs753000469
rs753000469 		0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06
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 0.010 1.000 1 2017 2017