ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
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: rs1557082399
rs1557082399 		1.000 X 77593803 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1992 2017
dbSNP: rs1557082399
rs1557082399 		1.000 X 77593803 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 21 1992 2017
dbSNP: rs1557082399
rs1557082399 		1.000 X 77593803 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1992 2017
dbSNP: rs150484080
rs150484080 		0.925 0.040 X 77684088 missense variant G/A snv 7.2E-05 6.6E-05
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs150484080
rs150484080 		0.925 0.040 X 77684088 missense variant G/A snv 7.2E-05 6.6E-05
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs122445112
rs122445112 		0.925 0.200 X 77523290 missense variant T/C snv 5.5E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1996 2005
dbSNP: rs122445112
rs122445112 		0.925 0.200 X 77523290 missense variant T/C snv 5.5E-06
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs122445111
rs122445111 		0.925 0.200 X 77684942 missense variant C/T snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1996 2005
dbSNP: rs122445111
rs122445111 		0.925 0.200 X 77684942 missense variant C/T snv
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs122445110
rs122445110 		0.882 0.200 X 77589902 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 21 1992 2017
dbSNP: rs122445110
rs122445110 		0.882 0.200 X 77589902 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1992 2017
dbSNP: rs122445110
rs122445110 		0.882 0.200 X 77589902 missense variant A/G snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1996 2005
dbSNP: rs122445110
rs122445110 		0.882 0.200 X 77589902 missense variant A/G snv
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs122445109
rs122445109 		0.925 0.200 X 77684030 missense variant A/G snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 6 1996 2005
dbSNP: rs122445109
rs122445109 		0.925 0.200 X 77684030 missense variant A/G snv
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs122445108
rs122445108 		0.807 0.320 X 77717155 stop gained G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs122445107
rs122445107 		1.000 0.080 X 77697589 stop gained G/C snv
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs122445106
rs122445106 		1.000 0.120 X 77633660 missense variant G/A snv 5.5E-06
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 1995 2011
dbSNP: rs122445105
rs122445105 		0.882 0.240 X 77684520 missense variant G/A snv
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 1995 2011