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: rs1057519380
rs1057519380
CTNNB1
0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.700 0
dbSNP: rs1057519380
rs1057519380
CTNNB1
0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.700 0