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: 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: 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: 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: rs797044883
rs797044883 		0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044883
rs797044883 		0.882 0.160 15 23645831 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: rs866419580
rs866419580 		1.000 0.080 15 23645981 stop gained G/A;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: rs869312694
rs869312694 		0.925 0.120 15 23644535 stop gained C/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: rs869312694
rs869312694 		0.925 0.120 15 23644535 stop gained C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs869312694
rs869312694 		0.925 0.120 15 23644535 stop gained C/A snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
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: 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: 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: 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