Source: UNIPROT

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: rs61750172
rs61750172
GUCY2D
0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		0.830 1.000 14 1998 2018
dbSNP: rs267606857
rs267606857
GUCY2D
1.000 0.080 17 8015404 missense variant T/C snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		0.800 1.000 14 1998 2018
dbSNP: rs61750173
rs61750173
GUCY2D
0.827 0.080 17 8014701 missense variant G/A snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		0.800 1.000 14 1998 2018
dbSNP: rs28933695
rs28933695
GUCY2D
0.851 0.080 17 8014699 missense variant G/C snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		0.710 1.000 14 1998 2018