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: rs9389268
rs9389268
HBS1L
1.000 0.080 6 135098493 intron variant A/G snv 0.24
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34208856
rs34208856
HBS1L
6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs9402682
rs9402682
HBS1L
6 135085045 intron variant G/T snv 0.42
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
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: 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: 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: 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: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs2210366
rs2210366
HBS1L
6 135094070 intron variant G/A snv 0.34
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs34208856
rs34208856
HBS1L
6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs35959442
rs35959442
HBS1L
6 135103041 5 prime UTR variant C/G;T snv 0.24
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs56131511
rs56131511
HBS1L
6 135068381 intron variant G/A;C snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: rs9402682
rs9402682
HBS1L
6 135085045 intron variant G/T snv 0.42
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
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: 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: 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: 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: rs1331309
rs1331309
HBS1L
6 135085040 intron variant T/G snv 0.19
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2017 2017
dbSNP: rs148394396
rs148394396
HBS1L
6 135022389 intron variant A/T snv 4.9E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs567333455
rs567333455
HBS1L
6 135094331 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA delins
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs6904897
rs6904897
HBS1L
6 135061842 intron variant T/G snv 0.34
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs9389268
rs9389268
HBS1L
1.000 0.080 6 135098493 intron variant A/G snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2017 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: rs34208856
rs34208856
HBS1L
6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016