rs9399137, HBS1L

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 5 2009 2019
Fetal hemoglobin determination
CUI: C0200695
Disease: Fetal hemoglobin determination
220 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 4 2007 2015
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
549 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 3 2009 2018
Finding of Mean Corpuscular Hemoglobin
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
1206 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 1 2013 2013
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
Hemoglobin A2 measurement
CUI: C0474543
Disease: Hemoglobin A2 measurement
5 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2015 2015
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2009 2009
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2019 2019
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2014 2014
Eosinophilic esophagitis
CUI: C0341106
Disease: Eosinophilic esophagitis
40 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
Ethylmalonic encephalopathy
CUI: C1865349
Disease: Ethylmalonic encephalopathy
33 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2011 2011