Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434304
rs121434304
GRM6
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 		0.800 1.000 0 2005 2013
dbSNP: rs62638197
rs62638197
GRM6
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 		0.800 0
dbSNP: rs62638202
rs62638202
GRM6
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 		0.800 0
dbSNP: rs62638208
rs62638208
GRM6
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 		0.800 0
dbSNP: rs62638625
rs62638625
GRM6
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 		0.800 1.000 0 2005 2013
dbSNP: rs62638197
rs62638197
GRM6
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 		0.700 1.000 1 2005 2005
dbSNP: rs62638214
rs62638214
GRM6
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 		0.700 1.000 1 2019 2019
dbSNP: rs781463257
rs781463257
GRM6
1.000 0.080 5 178992011 frameshift variant C/- delins 2.4E-05
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.700 1.000 1 2012 2012
dbSNP: rs1237461749
rs1237461749
GRM6
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 		0.700 0
dbSNP: rs62638214
rs62638214
GRM6
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 		0.700 0
dbSNP: rs62638624
rs62638624
GRM6
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 		0.700 0