ATR, ATR serine/threonine kinase, 545

N. diseases: 321; 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: rs1481733213
rs1481733213 		0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1481733213
rs1481733213 		0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1481733213
rs1481733213 		0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1481733213
rs1481733213 		0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1481733213
rs1481733213 		0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553760567
rs1553760567 		1.000 0.200 3 142505138 splice donor variant C/T snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553761113
rs1553761113 		0.851 0.240 3 142507967 missense variant C/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553761113
rs1553761113 		0.851 0.240 3 142507967 missense variant C/A snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553761113
rs1553761113 		0.851 0.240 3 142507967 missense variant C/A snv
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		0.700 0
dbSNP: rs1553761113
rs1553761113 		0.851 0.240 3 142507967 missense variant C/A snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553761113
rs1553761113 		0.851 0.240 3 142507967 missense variant C/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs387907327
rs387907327 		1.000 0.200 3 142497116 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776690
rs587776690 		0.882 0.280 3 142556439 synonymous variant T/C snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587777851
rs587777851 		1.000 0.200 3 142541008 missense variant C/A snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587777852
rs587777852 		1.000 0.200 3 142465860 non coding transcript exon variant G/C snv 9.8E-05
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045403
rs797045403 		1.000 0.200 3 142513500 splice donor variant C/A snv
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1281363680
rs1281363680 		1.000 0.040 3 142566228 missense variant T/C snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1301785134
rs1301785134 		0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06
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 0.010 1.000 1 2017 2017
dbSNP: rs1301785134
rs1301785134 		0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1301785134
rs1301785134 		0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs13065075
rs13065075 		3 142546324 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13067795
rs13067795 		3 142545016 intron variant C/A snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13085998
rs13085998 		3 142544970 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1802904
rs1802904 		0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1802904
rs1802904 		0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013