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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2019 2019