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: 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: 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: rs35514263
rs35514263 		0.925 0.080 3 142579202 upstream gene variant C/G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs35514263
rs35514263 		0.925 0.080 3 142579202 upstream gene variant C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs387906797
rs387906797 		1.000 3 142469458 missense variant T/C snv
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.800 1.000 1 2012 2012
dbSNP: rs587776690
rs587776690 		0.882 0.280 3 142556439 synonymous variant T/C snv
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: rs587776690
rs587776690 		0.882 0.280 3 142556439 synonymous variant T/C 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 0.010 1.000 1 2017 2017
dbSNP: rs587776690
rs587776690 		0.882 0.280 3 142556439 synonymous variant T/C snv
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: rs6791816
rs6791816 		3 142515148 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: rs7630115
rs7630115 		3 142491959 non coding transcript exon variant G/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs7630115
rs7630115 		3 142491959 non coding transcript exon variant G/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs7634158
rs7634158 		3 142509060 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: rs9808914
rs9808914 		3 142522216 intron variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9816736
rs9816736 		3 142453938 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: 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