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

rs162036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs162036(A;G)
Make rs162036(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position7885846
GeneMTRR
is asnp
is mentioned by
dbSNPrs162036
ebirs162036
HLIrs162036
Exacrs162036
Varsomers162036
Maprs162036
PheGenIrs162036
hapmaprs162036
1000 genomesrs162036
hgdprs162036
ensemblrs162036
gopubmedrs162036
geneviewrs162036
scholarrs162036
googlers162036
pharmgkbrs162036
gwascentralrs162036
openSNPrs162036
23andMers162036
23andMe allrs162036
SNP Nexus

SNPshotrs162036
SNPdbers162036
MSV3drs162036
GWAS Ctlgrs162036
GMAF0.2309
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MTRR
allele G
frequency 0.233
sift TOLERATED
HuRef 1103654018664
Disease Association Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) (MIM:236270); also known as vitamin B12- responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease.



[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects


[PMID 21211571] MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic

[PMID 19064578OA-icon.png] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

[PMID 19112534OA-icon.png] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.


GET Evidence
MTRR-K377R
aa_change Lys377Arg
aa_change_short K377R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.207752
summary



ClinVar
Risk rs162036(G;G)
Alt rs162036(G;G)
Reference rs162036(A;A)
Significance Non-pathogenic
Disease not specified Gastrointestinal stromal tumor
Variation info
Gene MTRR
CLNDBN not specified Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000005.9:g.7885959A>G
CLNSRC ClinVar University of Bologna GeneDx
CLNACC RCV000126870.2, RCV000144925.1,