rs1553630279, CTNNB1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CATARACT 32, MULTIPLE TYPES
CUI: C3887926
Disease: CATARACT 32, MULTIPLE TYPES
1 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
Little's Disease
CUI: C0023882
Disease: Little's Disease
6 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
Lower limb hypertonia
CUI: C1845245
Disease: Lower limb hypertonia
5 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
21 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017