CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: EXUDATIVE VITREORETINOPATHY 7 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748653573
rs748653573 		0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.800 0
dbSNP: rs1057519380
rs1057519380 		0.925 0.080 3 41239137 stop gained -/TAGCTATCGTTCTTTT delins
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.700 0
dbSNP: rs775104326
rs775104326 		0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		0.700 0