rs770374710, MAGEL2

N. diseases: 87
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.
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Dilation of lateral ventricles
CUI: C1856409
Disease: Dilation of lateral ventricles
3 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Distal arthrogryposis syndrome
CUI: C0265213
Disease: Distal arthrogryposis syndrome
15 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Humerus varus
CUI: C4025537
Disease: Humerus varus
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hyperhidrosis disorder
CUI: C0020458
Disease: Hyperhidrosis disorder
7 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hypernatremia
CUI: C0020488
Disease: Hypernatremia
3 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hypopituitarism
CUI: C0020635
Disease: Hypopituitarism
4 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Hypoxemia
CUI: C0700292
Disease: Hypoxemia
7 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0