FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency ×
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: 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