Have questions? Visit https://www.reddit.com/r/SNPedia

rs1041951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs1041951(C;T)
Make rs1041951(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57573273
GeneFECH
is asnp
is mentioned by
dbSNPrs1041951
ebirs1041951
HLIrs1041951
Exacrs1041951
Varsomers1041951
Maprs1041951
PheGenIrs1041951
hapmaprs1041951
1000 genomesrs1041951
hgdprs1041951
ensemblrs1041951
gopubmedrs1041951
geneviewrs1041951
scholarrs1041951
googlers1041951
pharmgkbrs1041951
gwascentralrs1041951
openSNPrs1041951
23andMers1041951
23andMe allrs1041951
SNP Nexus

SNPshotrs1041951
SNPdbers1041951
MSV3drs1041951
GWAS Ctlgrs1041951
GMAF0.06428
Max Magnitude0

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
Venter snp
Source plos
Gene FECH
allele T
frequency 0.15
sift TOLERATED
HuRef 1103645208469
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 18773191OA-icon.png] Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.


GET Evidence
FECH-R102Q
aa_change Arg102Gln
aa_change_short R102Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.120747
summary