Variant "HFE:c.77-206G>A"
Search results: 4 records
Variant information
Gene:
Variant:
HFE:c.77-206G>A
Genomic location:
chr6:26093141(hg19)
HGVS:
SO Term | RefSeq |
---|---|
protein_coding | NM_000410.3:c.845G>A(p.Cys282Tyr) |
protein_coding | NM_001300749.1:c.845G>A(p.Cys282Tyr) |
protein_coding | NM_139006.2:c.803G>A(p.Cys268Tyr) |
protein_coding | NM_139009.2:c.776G>A(p.Cys259Tyr) |
protein_coding | NM_139007.2:c.581G>A(p.Cys194Tyr) |
show all |
Alias:
HFE:rs1800562, HFE:c.G845A
dbSNP ID:
GWAS trait:
total iron binding capacity,erythrocyte count,diastolic blood pressure,hepcidin:ferritin ratio,hemoglobin measurement,mean corpuscular hemoglobin,low density lipoprotein cholesterol measurement,total cholesterol measurement,iron biomarker measurement,ferritin measurement,transferrin saturation measurement,transferrin measurement,serum iron measurement,mean corpuscular volume,A1C measurement,serum hepcidin measurement,hematocrit,alcohol drinking,osteoarthritis hip
Modifier statisitcs
Record:
4
Disorder:
3
Reference:
4
Effect type:
Expressivity(3)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Altered rates of CFRD(1)
,Altered severity(1)
,Risk factor(1)
Details: