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: rs113994152
rs113994152
TSEN54
0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0