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rs13043752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs13043752(A;A)
Make rs13043752(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position34295502
GeneAHCY
is asnp
is mentioned by
dbSNPrs13043752
ebirs13043752
HLIrs13043752
Exacrs13043752
Varsomers13043752
Maprs13043752
PheGenIrs13043752
hapmaprs13043752
1000 genomesrs13043752
hgdprs13043752
ensemblrs13043752
gopubmedrs13043752
geneviewrs13043752
scholarrs13043752
googlers13043752
pharmgkbrs13043752
gwascentralrs13043752
openSNPrs13043752
23andMers13043752
23andMe allrs13043752
SNP Nexus

SNPshotrs13043752
SNPdbers13043752
MSV3drs13043752
GWAS Ctlgrs13043752
GMAF0.006887
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

Venter snp
Source plos
Gene AHCY
allele A
frequency
sift AFFECT FUNCTION
HuRef 1103643191252
Disease Association Defects in AHCY are a cause of hypermethioninemia (MIM:180960). It is a disease characterized by elevated levels of methionine in the sera.



? (A;G) (G;G)
GET Evidence
AHCY-R38W
aa_change Arg38Trp
aa_change_short R38W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0137572
summary