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: rs730882213
rs730882213
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus
0.700 0