rs1559470315, CTNNB1

N. diseases: 26
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.
Abnormal brain lactate level by MRS
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
1 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Absent antitragus
CUI: C4023443
Disease: Absent antitragus
1 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Bicuspid aortic valve
CUI: C0149630
Disease: Bicuspid aortic valve
23 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
8 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Eversion of lower lip
CUI: C1853246
Disease: Eversion of lower lip
3 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Exudative vitreoretinopathy
CUI: C4072980
Disease: Exudative vitreoretinopathy
2 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Hyperopic astigmatism
CUI: C1847524
Disease: Hyperopic astigmatism
5 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
21 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Oral aversion
CUI: C3665983
Disease: Oral aversion
4 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Proximal placement of thumb
CUI: C1865572
Disease: Proximal placement of thumb
3 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0
Traction detachment of retina
CUI: C0154828
Disease: Traction detachment of retina
1 0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 0.700 0