GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
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: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11085824
rs11085824 		19 12890733 upstream gene variant A/G snv 0.31
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2017 2017
dbSNP: rs11085825
rs11085825 		19 12896644 intron variant C/T snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11085825
rs11085825 		19 12896644 intron variant C/T snv 0.31
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11085825
rs11085825 		19 12896644 intron variant C/T snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs121434368
rs121434368 		0.925 0.120 19 12899471 missense variant C/T snv
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs1277384196
rs1277384196 		0.925 0.120 19 12899507 missense variant T/C snv 4.0E-06
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs17706531
rs17706531 		19 12904716 non coding transcript exon variant A/G snv 0.33 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17706531
rs17706531 		19 12904716 non coding transcript exon variant A/G snv 0.33 0.30
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2242517
rs2242517 		19 12891749 non coding transcript exon variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3115524
rs3115524 		19 12910545 intron variant G/A;C;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3745647
rs3745647 		19 12891570 missense variant T/C;G snv 3.4E-02; 4.0E-06
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3745647
rs3745647 		19 12891570 missense variant T/C;G snv 3.4E-02; 4.0E-06
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: rs56397034
rs56397034 		19 12889736 upstream gene variant G/C snv 0.39
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs56397034
rs56397034 		19 12889736 upstream gene variant G/C snv 0.39
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs56397034
rs56397034 		19 12889736 upstream gene variant G/C snv 0.39
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs741702
rs741702 		19 12913436 intron variant A/C;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs741702
rs741702 		19 12913436 intron variant A/C;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs741702
rs741702 		19 12913436 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8012
rs8012 		19 12899706 3 prime UTR variant A/G snv 0.61 0.64
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs8012
rs8012 		19 12899706 3 prime UTR variant A/G snv 0.61 0.64
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs9384
rs9384 		19 12899829 3 prime UTR variant G/T snv 0.33
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs9384
rs9384 		19 12899829 3 prime UTR variant G/T snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012