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rs2306541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs2306541(A;A)
Make rs2306541(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position132851656
GeneCHFR
is asnp
is mentioned by
dbSNPrs2306541
ebirs2306541
HLIrs2306541
Exacrs2306541
Varsomers2306541
Maprs2306541
PheGenIrs2306541
hapmaprs2306541
1000 genomesrs2306541
hgdprs2306541
ensemblrs2306541
gopubmedrs2306541
geneviewrs2306541
scholarrs2306541
googlers2306541
pharmgkbrs2306541
gwascentralrs2306541
openSNPrs2306541
23andMers2306541
23andMe allrs2306541
SNP Nexus

SNPshotrs2306541
SNPdbers2306541
MSV3drs2306541
GWAS Ctlgrs2306541
GMAF0.2433
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CHFR
allele A
frequency 0.304
sift TOLERATED
HuRef 1103649581692
Disease Association Defects in CHFR may be involved in colon, lung and esophageal cancers and non small cell lung carcinomas (NSCLC). In addition, CHFR gene is silenced in many primary cancers because of CpG methylation and deacetylated histones on its promoter region. This however raises the question of whether CHFR silencing is a consequence or a cause of primary cancers.



GET Evidence
CHFR-A497V
aa_change Ala497Val
aa_change_short A497V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.27942
summary