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: rs1557006873
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0