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: rs1555374117
rs1555374117 		1.000 15 23644621 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2015
dbSNP: rs1555374117
rs1555374117 		1.000 15 23644621 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883 		0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883 		0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2015
dbSNP: rs11161318
rs11161318 		0.925 0.040 15 23643119 downstream gene variant G/A snv 0.16
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11161318
rs11161318 		0.925 0.040 15 23643119 downstream gene variant G/A snv 0.16
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs398122416
rs398122416 		1.000 0.080 15 23645941 frameshift variant G/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs398122417
rs398122417 		1.000 0.080 15 23644561 frameshift variant AT/- delins
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs398122418
rs398122418 		1.000 0.080 15 23644619 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 1.000 1 2016 2016
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