rs312262690, ANTXR2

N. diseases: 28
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 pigmentation
CUI: C1260926
Disease: Abnormal pigmentation
5 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Abnormality of skin morphology
CUI: C4023528
Disease: Abnormality of skin morphology
2 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
5 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Aneurysm of aortic root
CUI: C1298820
Disease: Aneurysm of aortic root
15 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
6 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Contracture of joint of thumb
CUI: C0409346
Disease: Contracture of joint of thumb
1 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Delayed speech and language development
192 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Generalized bone demineralization
CUI: C1833326
Disease: Generalized bone demineralization
1 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
5 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Hyalinosis, Systemic
CUI: C2745948
Disease: Hyalinosis, Systemic
30 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Leukocytosis
CUI: C0023518
Disease: Leukocytosis
4 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Limited neck range of motion
CUI: C1859212
Disease: Limited neck range of motion
2 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
10 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Skin tag
CUI: C0037293
Disease: Skin tag
1 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Smooth philtrum
CUI: C1142533
Disease: Smooth philtrum
10 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
Thick lower lip vermilion
CUI: C1839739
Disease: Thick lower lip vermilion
10 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0