FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
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: rs121918405
rs121918405 		11 72195454 stop gained C/G;T snv 7.0E-06
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		Nervous System Diseases 0.700 1.000 2 2009 2009
dbSNP: rs1540087
rs1540087 		1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs1057518816
rs1057518816 		1.000 0.040 11 72195389 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs121918406
rs121918406 		11 72195928 stop gained C/A;T snv 4.0E-06
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		Nervous System Diseases 0.700 0
dbSNP: rs144637717
rs144637717 		11 72195749 splice donor variant T/C snv 3.4E-03 1.6E-03
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		Nervous System Diseases 0.700 0
dbSNP: rs1555069069
rs1555069069 		11 72195359 stop gained G/A snv
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		Nervous System Diseases 0.700 0
dbSNP: rs371399726
rs371399726 		11 72196080 missense variant C/T snv 4.0E-05 5.6E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 1999 2000
dbSNP: rs1540087
rs1540087 		1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs952165627
rs952165627 		1.000 11 72196013 stop gained C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.010 1.000 1 2014 2014