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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 1.000 10 1993 2015
Abnormal cornea morphology
CUI: C1855670
Disease: Abnormal cornea morphology
4 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Abnormal pupillary light reflex
CUI: C1970591
Disease: Abnormal pupillary light reflex
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Abnormality of inferior oblique extraocular muscle
CUI: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Absent distal interphalangeal creases
CUI: C1861349
Disease: Absent distal interphalangeal creases
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Absent frontal sinuses
CUI: C1855669
Disease: Absent frontal sinuses
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
8 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Adrenal gland hypofunction
CUI: C0001623
Disease: Adrenal gland hypofunction
10 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Bradycardia
CUI: C0428977
Disease: Bradycardia
2 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Central Diabetes Insipidus
CUI: C0687720
Disease: Central Diabetes Insipidus
21 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Central hypothyroidism
CUI: C0271801
Disease: Central hypothyroidism
3 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Chronic lung disease
CUI: C0746102
Disease: Chronic lung disease
12 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Clinodactyly of the 5th toe
CUI: C4025741
Disease: Clinodactyly of the 5th toe
4 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Complete duplication of thumb phalanx
CUI: C3554724
Disease: Complete duplication of thumb phalanx
1 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Congenital overgrowth of lower limb
CUI: C0431928
Disease: Congenital overgrowth of lower limb
2 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Contracture of joint of hand
CUI: C0158113
Disease: Contracture of joint of hand
5 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
Decreased circulating cortisol level
CUI: C1836623
Disease: Decreased circulating cortisol level
2 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0