HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
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: rs111033563
rs111033563
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs35201683
rs35201683
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs780246573
rs780246573
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
0.807 0.240 6 26091479 stop gained G/A snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2005 2005