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: rs61750173
rs61750173
GUCY2D
0.827 0.080 17 8014701 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2001 2001
dbSNP: rs878853342
rs878853342
GUCY2D
17 8016241 stop gained A/G;T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0