rs1331463984, TRAF7

N. diseases: 33
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.
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
CUI: C4748484
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
4 0.701 0.240 16 2176350 missense variant G/A snv 0.800 0
Abnormal cerebral artery morphology
CUI: C4021520
Disease: Abnormal cerebral artery morphology
1 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Abnormality of neck blood vessel
CUI: C4073245
Disease: Abnormality of neck blood vessel
2 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Abnormality of the cervical spine
CUI: C1852464
Disease: Abnormality of the cervical spine
4 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Basilar invagination
CUI: C3887851
Disease: Basilar invagination
1 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Biting self
CUI: C0424375
Disease: Biting self
3 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Cleft anterior mitral valve leaflet
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
2 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Decreased palmar creases
CUI: C1857483
Disease: Decreased palmar creases
4 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Distichiasis
CUI: C0423848
Disease: Distichiasis
2 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Long toe
CUI: C3150613
Disease: Long toe
8 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Narrow palate
CUI: C1398312
Disease: Narrow palate
5 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Partial atrioventricular canal
CUI: C0344735
Disease: Partial atrioventricular canal
1 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
Pelvic kidney
CUI: C0221209
Disease: Pelvic kidney
1 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0