MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499934
rs1060499934 		1.000 0.080 15 23644785 frameshift variant C/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1250752332
rs1250752332 		1.000 0.080 15 23647705 frameshift variant -/TG delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555374227
rs1555374227 		1.000 0.080 15 23645625 frameshift variant A/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555374290
rs1555374290 		1.000 0.080 15 23646122 stop gained G/A snv
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1566784441
rs1566784441 		1.000 0.080 15 23645982 stop gained C/T snv
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122415
rs398122415 		1.000 0.080 15 23646091 frameshift variant A/- del
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1820737
Disease: Temperature instability
Temperature instability 		0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		Endocrine System Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0