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rs12749581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs12749581(A;A)
Make rs12749581(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236803548
GeneMTR
is asnp
is mentioned by
dbSNPrs12749581
ebirs12749581
HLIrs12749581
Exacrs12749581
Varsomers12749581
Maprs12749581
PheGenIrs12749581
hapmaprs12749581
1000 genomesrs12749581
hgdprs12749581
ensemblrs12749581
gopubmedrs12749581
geneviewrs12749581
scholarrs12749581
googlers12749581
pharmgkbrs12749581
gwascentralrs12749581
openSNPrs12749581
23andMers12749581
23andMe allrs12749581
SNP Nexus

SNPshotrs12749581
SNPdbers12749581
MSV3drs12749581
GWAS Ctlgrs12749581
GMAF0.002296
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MTR
allele A
frequency 0.008
sift AFFECT FUNCTION
HuRef 1103675372481
Disease Association Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) (MIM:250940); also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis.



GET Evidence
MTR-R52Q
aa_change Arg52Gln
aa_change_short R52Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00492657
summary