GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: Night blindness, congenital stationary ×
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: rs62638197
rs62638197 		0.925 0.080 5 178994808 missense variant G/A snv 9.2E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2005 2005
dbSNP: rs781463257
rs781463257 		1.000 0.080 5 178992011 frameshift variant C/- delins 2.4E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1237461749
rs1237461749 		1.000 0.080 5 178994813 inframe insertion AGCGTCAGGCCGCCC/-;AGCGTCAGGCCGCCCAGCGTCAGGCCGCCC delins 7.1E-06
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1413749549
rs1413749549 		1.000 0.080 5 178994793 missense variant C/A;T snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs748724069
rs748724069 		1.000 0.080 5 178986948 missense variant C/G;T snv 8.0E-06
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019