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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0202105
Disease: Transferrin measurement
Transferrin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 2 2011 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 5 2011 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0428545
Disease: Serum transferrin measurement
Serum transferrin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 2 2011 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 2 2011 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs56275179
rs56275179
HFE ; LOC108783645
1.000 0.040 6 26089112 intron variant G/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019
dbSNP: rs61472021
rs61472021
HFE ; LOC108783645
1.000 0.040 6 26089797 intron variant T/C snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs6918586
rs6918586
HFE
0.882 0.160 6 26097156 3 prime UTR variant T/C snv 0.45
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
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: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 3 2009 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016