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: rs4273389
rs4273389 		3 142495088 intron variant A/G snv 0.64
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs531114901
rs531114901 		3 142496336 intron variant -/ATATCT;ATCT;ATGTATATATATATACATGTATATATATATGTATATATATATATCT;CT delins 9.6E-04
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6780250
rs6780250 		3 142460655 non coding transcript exon variant T/C snv 0.66
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6782400
rs6782400 		3 142576526 intron variant C/A snv 0.64
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs7620648
rs7620648 		3 142496336 intron variant A/C;G snv 1.1E-05; 0.51; 5.7E-06 0.62
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs7647573
rs7647573 		3 142532741 intron variant C/T snv 0.64
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7651071
rs7651071 		3 142525008 intron variant T/A snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9683085
rs9683085 		3 142529656 intron variant G/A snv 0.64
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: rs9808943
rs9808943 		3 142522281 intron variant T/C snv 0.64
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: rs9855919
rs9855919 		3 142515747 intron variant C/A snv 0.64
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9869842
rs9869842 		3 142553472 intron variant G/A snv 0.63
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
dbSNP: rs6805118
rs6805118 		0.925 0.080 3 142498074 intron variant C/T snv 6.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6805118
rs6805118 		0.925 0.080 3 142498074 intron variant C/T snv 6.9E-02
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: rs2227930
rs2227930 		3 142558733 synonymous variant A/T snv 0.55 0.63
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
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: rs2227928
rs2227928 		0.851 0.200 3 142562770 missense variant A/G snv 0.55 0.63
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017