GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
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: 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: rs62638214
rs62638214 		0.925 0.080 5 178986393 stop gained G/A snv 1.5E-04 1.2E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2019 2019
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: 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
dbSNP: rs11746675
rs11746675 		1.000 0.040 5 178986946 synonymous variant T/C snv 0.60 0.57
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016
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: rs2067011
rs2067011 		1.000 0.040 5 178988936 splice region variant A/G snv 0.53 0.51
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2645339
rs2645339 		1.000 0.040 5 178989062 synonymous variant G/A snv 0.53 0.50
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016
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
dbSNP: rs762724
rs762724 		1.000 0.040 5 178989881 non coding transcript exon variant C/G;T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016