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: rs1555955061
rs1555955061
CHM
X 85965588 intron variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1555955061
rs1555955061
CHM
X 85965588 intron variant T/C snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0