Source: GWASCAT

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: rs9399137
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 5 2009 2019
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 4 2009 2013
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 3 2009 2013
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2012 2018
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2018
dbSNP: rs9376090
rs9376090
HBS1L
6 135090090 intron variant T/C snv 0.19
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 1.000 2 2009 2012
dbSNP: rs9399137
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2015
dbSNP: rs9399137
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2009 2018
dbSNP: rs1547247
rs1547247
HBS1L
6 135069698 intron variant G/A snv 0.22
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 1.000 1 2009 2019
dbSNP: rs7745098
rs7745098
HBS1L
1.000 0.120 6 135093866 intron variant C/G;T snv
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.800 1.000 1 2013 2013
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.800 1.000 1 2010 2012
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2010 2012
dbSNP: rs9373124
rs9373124
HBS1L
6 135102071 intron variant T/C snv 0.33
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.800 1.000 1 2011 2011
dbSNP: rs9373124
rs9373124
HBS1L
6 135102071 intron variant T/C snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2009 2012
dbSNP: rs9376090
rs9376090
HBS1L
6 135090090 intron variant T/C snv 0.19
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 1.000 1 2009 2018
dbSNP: rs9376090
rs9376090
HBS1L
6 135090090 intron variant T/C snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs9399137
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 1 2013 2013
dbSNP: rs4896131
rs4896131
HBS1L
6 135070962 intron variant C/A snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2016 2018
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2010 2019
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2017
dbSNP: rs11757577
rs11757577
HBS1L
6 135070327 intron variant G/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12664956
rs12664956
HBS1L
6 135063050 intron variant T/C snv 0.31
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs12664956
rs12664956
HBS1L
6 135063050 intron variant T/C snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs1331308
rs1331308
HBS1L
6 135083984 intron variant A/C snv 0.61
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016