FLVCR1, FLVCR heme transporter 1, 28982

N. diseases: 188; N. variants: 12
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: rs1468358104
rs1468358104 		1 212858454 start lost T/C snv 3.7E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1997 2016
dbSNP: rs1468358104
rs1468358104 		1 212858454 start lost T/C snv 3.7E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1997 2016
dbSNP: rs899735028
rs899735028 		1 212858455 start lost G/T snv 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1997 2016
dbSNP: rs899735028
rs899735028 		1 212858455 start lost G/T snv 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1997 2016
dbSNP: rs12750027
rs12750027 		1.000 0.080 1 212883085 intron variant G/A snv 4.3E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1558104145
rs1558104145 		1.000 0.120 1 212858539 synonymous variant G/C snv
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
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: rs547679833
rs547679833 		1.000 0.080 1 212863771 missense variant A/C;G snv 2.4E-05 7.0E-06
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: rs1468358104
rs1468358104 		1 212858454 start lost T/C snv 3.7E-05
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs529365517
rs529365517 		0.925 0.080 1 212858540 missense variant C/T snv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs529365517
rs529365517 		0.925 0.080 1 212858540 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs529365517
rs529365517 		0.925 0.080 1 212858540 missense variant C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
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
dbSNP: rs753000469
rs753000469 		0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs753000469
rs753000469 		0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs753000469
rs753000469 		0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2017 2017