Alternative Symbols
- HLA-H [HGNC]
- HFE1 [HGNC]
Alternative Names
- hemochromatosis [SNPedia, HGNC]
SNPs
| rsID | SNPedia | dbSNP | Chips | Special Name | Wild (plus) | Risk (plus) | Frequency | PubMed IDs |
|---|---|---|---|---|---|---|---|---|
| rs1800562 |  | | A45 | GG | AA | A=0.033212 | 15591282 17847004 19084217 19820697 19820699 19862010 20029940 20858683 20927387 21665994 21785125 21943158 20686565 18603647 18795173 19165391 19401444 19474294 19673882 20659343 21240526 21679129 22611049 18246059 23389292 23263863 23446634 23792061 22735619 23468552 23794717 25085015 24097068 21483845 24663082 26460247 26597663 26690219 | |
| rs1799945 | | | A45 | CC | GG | G=0.109240 | 1278715 8696333 21452290 21208937 22232660 21909115 18194558 18603647 18795173 19084217 19165391 19237423 19401444 19862010 20659343 21553046 21679129 22611049 23389292 23792061 22735619 25085015 25634189 24663082 25880661 26024779 26597663 26690219 | |
| rs1800730 | | | A45 | AA | TT | T=0.010239 | 10194428 23418762 23792061 | |
| rs62625346 | | A45 | GG | AA | A=0.000099 | |||
| rs9366637 | | | A5 | CC | TT | T=0.115762 | 21696736 23792061 26054392 | |
| rs6918586 | | | A4 | TT | CC | C=0.448856 | 23389292 | |
| rs2071303 | | A4 | TT | CC | C=0.375405 | |||
| rs2071302 | | A5 | TT | CC | C=0.007972 | |||
| rs146508927 | | A4 | GG | AA | A=0.000044 | |||
| rs140080192 | | A5 | AA | A=0.003560 | ||||
| rs1150658 | | A5 | TT | T=0.218519 | ||||
| rs765804978 | | | A | DD | D=0.000016 | |||
| rs749553271 | | | A | GG | TT | T=0.000008 | ||
| rs146519482 | | | A | GG | CC | C=0.000446 | ||
| rs573745685 | | A | GG | AA | A=0.000064 | |||
| rs2858996 | | A | TT | T=0.178493 | ||||
| i3002468 | | 45 | 23418762 | |||||
| rs28934597 | | | 4 | GG | CC | C=0.000012 | ||
| rs707889 | | 4 | AA | A=0.218384 | ||||
| rs28934596 | | | 4 | TT | CC | C=0.000004 | ||
| rs2794719 | | 4 | GG | G=0.379906 | ||||
| rs17596719 | | 4 | GG | AA | A=0.088183 | |||
| rs1572982 | | | 4 | GG | G=0.464370 | 23389292 18194558 | ||
| rs797045145 | | | GG | AA | ||||
| rs28934595 | | | AA | CC | ||||
| rs111033563 | | | AA | CC | C=0.000004 | |||
| rs773296212 | | | DD | D=0.000004 | ||||
| rs28934890 | | | ||||||
| rs28934889 | | | GG | AA | A=0.000060 | |||
| rs28934888 | | | ||||||
| rs17515604 | | | ||||||
| rs111033558 | | | GG | CC | C=0.000008 | |||
| rs111033557 | | | GG | AA | A=0.000028 |
PubMed References
-
PMID:23794717 [rs1800562]
PMID:19237423 [rs1799945]
PMID:20029940 [rs1800562]
PMID:21909115 [rs1799945]
PMID:23389292 [rs1572982,rs1799945,rs1800562,rs6918586]
PMID:26054392 [rs9366637]
PMID:18194558 [rs1572982,rs1799945]
PMID:25880661 [rs1799945]
PMID:25634189 [rs1799945]
PMID:23418762 [i3002468,rs1800730]
PMID:19474294 [rs1800562]
PMID:18246059 [rs1800562]
PMID:21452290 [rs1799945]
PMID:20858683 [rs1800562]
PMID:3460331 [HGNC]
PMID:21208937 [rs1799945]
PMID:21240526 [rs1800562]
PMID:19820697 [rs1800562]
PMID:21665994 [rs1800562]
PMID:21553046 [rs1799945]
PMID:21785125 [rs1800562]
PMID:20927387 [rs1800562]
PMID:22232660 [rs1799945]
PMID:19084217 [rs1799945,rs1800562]
PMID:26690219 [rs1799945,rs1800562]
PMID:17847004 [rs1800562]
PMID:23263863 [rs1800562]
PMID:23792061 [rs1799945,rs1800562,rs1800730,rs9366637]
PMID:19401444 [rs1799945,rs1800562]
PMID:19165391 [rs1799945,rs1800562]
PMID:21943158 [rs1800562]
PMID:19820699 [rs1800562]
PMID:19673882 [rs1800562]
PMID:20659343 [rs1799945,rs1800562]
PMID:1278715 [rs1799945]
PMID:10194428 [rs1800730]
PMID:26597663 [rs1799945,rs1800562]
PMID:20686565 [rs1800562]
PMID:18603647 [rs1799945,rs1800562]
PMID:23468552 [rs1800562]
PMID:18795173 [rs1799945,rs1800562]
PMID:8696333 [rs1799945]
PMID:21679129 [rs1799945,rs1800562]
PMID:22611049 [rs1799945,rs1800562]
PMID:9054933 [HGNC]
PMID:24097068 [rs1800562]
PMID:21483845 [rs1800562]
PMID:26024779 [rs1799945]
PMID:21696736 [rs9366637]
PMID:24663082 [rs1799945,rs1800562]
PMID:19862010 [rs1799945,rs1800562]
PMID:22735619 [rs1799945,rs1800562]
PMID:15591282 [rs1800562]
PMID:28474781 [HGNC]
PMID:25085015 [rs1799945,rs1800562]
PMID:23446634 [rs1800562]
PMID:26460247 [rs1800562]
Other References
-
SNPedia=HFE
EntrezGene=3077
PheGenI=3077
ClinVar=HFE
GeneCards=HFE
Wikipedia=HFE
Google=HFE
UniProt=Q30201
Ensembl=ENSG00000010704
OMIM=613609