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: rs387906797
rs387906797
1.000 3 142469458 missense variant T/C snv
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.800 1.000 1 2012 2012
dbSNP: rs13065075
rs13065075
3 142546324 intron variant T/A;C snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs13067795
rs13067795
3 142545016 intron variant C/A snv 0.65
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs13085998
rs13085998
3 142544970 intron variant T/A;C snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2227928
rs2227928
0.851 0.200 3 142562770 missense variant A/G snv 0.55 0.63
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
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: rs2227930
rs2227930
3 142558733 synonymous variant A/T snv 0.55 0.63
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2227930
rs2227930
3 142558733 synonymous variant A/T snv 0.55 0.63
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2018 2018
dbSNP: rs28910273
rs28910273
3 142469495 missense variant A/C snv 3.2E-03 3.4E-03
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs3922730
rs3922730
3 142484015 intron variant A/T snv 0.64
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs4273389
rs4273389
3 142495088 intron variant A/G snv 0.64
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
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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2018 2018
dbSNP: rs6780250
rs6780250
3 142460655 non coding transcript exon variant T/C snv 0.66
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs6782400
rs6782400
3 142576526 intron variant C/A snv 0.64
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs6782400
rs6782400
3 142576526 intron variant C/A snv 0.64
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs6782400
rs6782400
3 142576526 intron variant C/A snv 0.64
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs6791816
rs6791816
3 142515148 intron variant T/A;C snv
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
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
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
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs7634158
rs7634158
3 142509060 intron variant T/A;C snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs7636909
rs7636909
3 142541720 intron variant A/G snv 0.50
RDW - Red blood cell distribution width result
0.700 1.000 1 2017 2017
dbSNP: rs7636909
rs7636909
3 142541720 intron variant A/G snv 0.50
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs7647573
rs7647573
3 142532741 intron variant C/T snv 0.64
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012