GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B ×
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: rs121434304
rs121434304 		1.000 0.080 5 178989075 missense variant A/G;T snv 3.2E-05; 4.0E-06
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2005 2013
dbSNP: rs62638625
rs62638625 		1.000 0.080 5 178983005 missense variant C/T snv 8.0E-05; 4.0E-06 3.6E-04
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 3 2005 2013
dbSNP: rs62638197
rs62638197 		0.925 0.080 5 178994808 missense variant G/A snv 9.2E-05
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs62638202
rs62638202 		1.000 0.080 5 178994497 missense variant C/T snv 2.8E-05
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs62638208
rs62638208 		1.000 0.080 5 178986689 missense variant C/T snv 2.5E-05 3.5E-05
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs62638198
rs62638198 		1.000 0.080 5 178994773 missense variant C/A;G;T snv
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62638214
rs62638214 		0.925 0.080 5 178986393 stop gained G/A snv 1.5E-04 1.2E-04
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62638624
rs62638624 		1.000 0.080 5 178986132 stop gained G/A;T snv 7.2E-05; 8.0E-06
CUI: C1850362
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0