FOLR2, folate receptor beta, 2350

N. diseases: 105; N. variants: 4
Disease: Neural Tube Defects ×
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: rs1203798584
rs1203798584 		11 72221671 missense variant C/T snv 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs651646
rs651646 		11 72218482 intron variant T/A snv 0.52
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2003 2003