CTNNB1, catenin beta 1, 1499

N. diseases: 70; N. variants: 52
Disease: Little's Disease ×
Source: CLINVAR ×
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: rs1553630279
rs1553630279 		0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0023882
Disease: Little's Disease
Little's Disease 		Nervous System Diseases 0.700 1.000 3 1989 2017