Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2236496
rs2236496
RCL1
9 4844265 intron variant T/C snv 0.19
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 3 2010 2013
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 1.000 2 2009 2019
dbSNP: rs10758658
rs10758658
RCL1
9 4856877 intron variant G/A snv 0.15
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2009 2017
dbSNP: rs10758658
rs10758658
RCL1
9 4856877 intron variant G/A snv 0.15
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs13300663
rs13300663
RCL1
9 4814948 intron variant G/A;C snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs423955
rs423955
RCL1
9 4792339 upstream gene variant C/A;G;T snv 0.56
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2014 2014
dbSNP: rs457287
rs457287
RCL1
9 4834394 intron variant A/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2013 2013
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2017 2019
dbSNP: rs10758658
rs10758658
RCL1
9 4856877 intron variant G/A snv 0.15
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2017 2018
dbSNP: rs1053872
rs1053872
RCL1
0.925 0.080 9 4860643 3 prime UTR variant G/C;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1053872
rs1053872
RCL1
0.925 0.080 9 4860643 3 prime UTR variant G/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10739069
rs10739069
RCL1
9 4863305 intron variant T/A snv 0.25
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs10739069
rs10739069
RCL1
9 4863305 intron variant T/A snv 0.25
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
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: rs10758657
rs10758657
RCL1
9 4853751 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10758657
rs10758657
RCL1
9 4853751 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs10758658
rs10758658
RCL1
9 4856877 intron variant G/A snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10758661
rs10758661
RCL1
9 4863952 intron variant A/G snv 0.80
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10815094
rs10815094
RCL1
9 4845520 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10815094
rs10815094
RCL1
9 4845520 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs10815095
rs10815095
RCL1 ; MIR101-2
9 4848297 intron variant A/G snv 0.19
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016