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rs6586282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs6586282(C;T)
Make rs6586282(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43058387
GeneCBS
is asnp
is mentioned by
dbSNPrs6586282
ebirs6586282
HLIrs6586282
Exacrs6586282
Varsomers6586282
Maprs6586282
PheGenIrs6586282
hapmaprs6586282
1000 genomesrs6586282
hgdprs6586282
ensemblrs6586282
gopubmedrs6586282
geneviewrs6586282
scholarrs6586282
googlers6586282
pharmgkbrs6586282
gwascentralrs6586282
openSNPrs6586282
23andMers6586282
23andMe allrs6586282
SNP Nexus

SNPshotrs6586282
SNPdbers6586282
MSV3drs6586282
GWAS Ctlgrs6586282
GMAF0.1419
Max Magnitude0
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 20031578OA-icon.png]
Trait Plasma homocysteine
Title Novel Associations of CPS1, MUT, NOX4, and DPEP1 With Plasma Homocysteine in a Healthy Population: A Genome-Wide Evaluation of 13 974 Participants in the Women's Genome Health Study
Risk Allele
P-val 3E-10
Odds Ratio 0.03 [NR] unit decrease in log(homocysteine)


[PMID 18818748OA-icon.png] Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.


[PMID 19303062OA-icon.png] Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.


[PMID 19525478OA-icon.png] Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.


GET Evidence
rs6586282
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.174603
summary



GWAS snp
PMID [PMID 23720494OA-icon.png]
Trait Blood trace element (Se levels)
Title Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
Risk Allele
P-val 5E-6
Odds Ratio .12 [0.068-0.166] unit increase


[PMID 26508567] Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis


ClinVar
Risk rs6586282(T;T)
Alt rs6586282(T;T)
Reference rs6586282(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CBS
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.44478497C>T
CLNSRC
CLNACC RCV000199911.1,