|| common on affy axiom data
rs1041951, also known as R96Q, is a SNP in the FECH gene. The allele frequency of the minor allele is between 5 - 10%, based on data in dbSNP and ExAC.
This SNP is reported to be a neutral polymorphism.[PMID 18698088]
|?|| (C;C) (C;T) (T;T) ||28|
| Disease Association
|| 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 18773191] Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.
|| not reviewed
|| Insufficiently evaluated not reviewed