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: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0015310
Disease: Exotropia
Exotropia 		0.700 0