GPR143, G protein-coupled receptor 143, 4935

N. diseases: 47; N. variants: 29
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED ×
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: rs137852298
rs137852298 		1.000 X 9760811 missense variant G/A snv
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED 		0.800 0
dbSNP: rs1569118851
rs1569118851 		1.000 X 9743601 frameshift variant A/- del
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED 		0.700 0