{{Rsnum
|rsid=1041951
|Gene=FECH
|Chromosome=18
|position=57573273
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.06428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=FECH
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 74.5 | 22.7 | 2.7
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 87.7 | 11.6 | 0.7
| ASW | 93.0 | 7.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 96.0 | 4.0 | 0.0
| LWK | 97.2 | 2.8 | 0.0
| MEX | 82.5 | 15.8 | 1.8
| MKK | 95.5 | 4.5 | 0.0
| TSI | 73.7 | 25.3 | 1.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1041951
|allele=T
|frequency=0.15
|uid=1103645208469
|type=heterozygous_SNP
|hugo=FECH
|ensembl gene=ENSG00000066926
|ensembl transcript=ENST00000262093
|sift=TOLERATED
|disease=Defects in FECH are the cause of erythropoietic protoporphyria (EPP) (MIM:177000). EPP is an dominantly inherited disease of porphyrin metabolism. Depending on the mutation, it can sometimes be recessive. The clinical manifestations are photosensitivity and hepatobiliary disease.
}}

{{PMID Auto
|PMID=18773191
|Title=Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.
|OA=1
}}

{{GET Evidence
|gene=FECH
|aa_change=Arg102Gln
|aa_change_short=R102Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1041951
|overall_frequency_n=1299
|overall_frequency_d=10758
|overall_frequency=0.120747
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}