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: rs587776756
rs587776756 		1.000 0.080 X 77785981 splice donor variant C/T 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: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C 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 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C 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: rs398123425
rs398123425 		0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs199474698
rs199474698 		1.000 0.120 X 77523383 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 0.010 1.000 1 2011 2011
dbSNP: rs1569539477
rs1569539477 		1.000 0.120 X 77684505 missense variant T/C 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: rs1569535642
rs1569535642 		1.000 0.120 X 77654098 splice region variant C/T 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 1.000 2 1996 2011
dbSNP: rs1569515457
rs1569515457 		1.000 0.120 X 77520796 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: rs1569513021
rs1569513021 		1.000 X 77508631 splice acceptor variant T/C snv
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		0.700 0
dbSNP: rs1569513017
rs1569513017 		1.000 X 77508625 frameshift variant A/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C0013132
Disease: Drooling
Drooling 		Stomatognathic Diseases 0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		Mental Disorders 0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1557106484
rs1557106484 		X 77633315 missense variant C/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1557106482
rs1557106482 		1.000 0.120 X 77633302 missense variant A/G 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: rs1557082399
rs1557082399 		1.000 X 77593803 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 21 1992 2017