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: rs1057519379
rs1057519379
CTNNB1
0.882 0.080 3 41233777 frameshift variant -/C ins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1057519379
rs1057519379
CTNNB1
0.882 0.080 3 41233777 frameshift variant -/C ins
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.700 0