GPR179, G protein-coupled receptor 179, 440435

N. diseases: 23; N. variants: 13
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: rs281875234
rs281875234 		0.925 0.080 17 38334016 missense variant G/A snv
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 1.000 2 2012 2012
dbSNP: rs281875236
rs281875236 		1.000 17 38343131 missense variant T/C snv 5.6E-05 3.5E-05
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 1.000 2 2012 2012
dbSNP: rs281875233
rs281875233 		1.000 17 38343414 missense variant C/G snv 4.0E-06
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 1.000 2 2012 2012
dbSNP: rs281875235
rs281875235 		1.000 17 38335633 missense variant C/T snv 4.0E-06
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 1.000 2 2012 2012
dbSNP: rs770066665
rs770066665 		0.925 0.080 17 38337640 frameshift variant G/- delins 5.1E-04 4.8E-04
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2012
dbSNP: rs1567725425
rs1567725425 		1.000 17 38334761 frameshift variant T/- del
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 1.000 1 2012 2012
dbSNP: rs1200683561
rs1200683561 		1.000 0.080 17 38330861 frameshift variant -/TG delins
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1567728372
rs1567728372 		1.000 17 38343009 frameshift variant -/AG delins
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs387907138
rs387907138 		1.000 17 38343192 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs770066665
rs770066665 		0.925 0.080 17 38337640 frameshift variant G/- delins 5.1E-04 4.8E-04
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs773126191
rs773126191 		1.000 17 38334703 splice donor variant C/T snv
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs794726685
rs794726685 		0.925 0.080 17 38343512 frameshift variant G/-;GG delins
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs794726686
rs794726686 		1.000 17 38343603 frameshift variant G/- del
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 0
dbSNP: rs886043488
rs886043488 		1.000 0.080 17 38339517 stop gained ACCTG/GTAGATCA delins
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs281875234
rs281875234 		0.925 0.080 17 38334016 missense variant G/A 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 2012 2012
dbSNP: rs794726685
rs794726685 		0.925 0.080 17 38343512 frameshift variant G/-;GG delins
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 2012 2012