FOLR3, folate receptor gamma, 2352

N. diseases: 8; N. variants: 5
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: rs139130389
rs139130389 		11 72139111 frameshift variant AT/-;ATAT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs374628070
rs374628070 		1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs374628070
rs374628070 		1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs7925545
rs7925545 		1.000 0.080 11 72134495 intron variant A/G snv 8.4E-02
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7926875
rs7926875 		1.000 0.080 11 72138396 intron variant C/A snv 6.9E-02
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7926987
rs7926987 		1.000 0.080 11 72138457 intron variant C/G;T snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2010 2010