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rs1047891

From SNPedia

Orientationplus
Stabilizedplus
Make rs1047891(A;A)
Make rs1047891(A;C)
Make rs1047891(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position210675783
GeneCPS1
is asnp
is mentioned by
dbSNPrs1047891
ebirs1047891
HLIrs1047891
Exacrs1047891
Varsomers1047891
Maprs1047891
PheGenIrs1047891
hapmaprs1047891
1000 genomesrs1047891
hgdprs1047891
ensemblrs1047891
gopubmedrs1047891
geneviewrs1047891
scholarrs1047891
googlers1047891
pharmgkbrs1047891
gwascentralrs1047891
openSNPrs1047891
23andMers1047891
23andMe allrs1047891
SNP Nexus

SNPshotrs1047891
SNPdbers1047891
MSV3drs1047891
GWAS Ctlgrs1047891
Merged fromRs7422339
GMAF0.2681
Max Magnitude
? (A;A) (A;C) (C;C) 28
[PMID 19525478OA-icon.png] Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.


[PMID 20031577OA-icon.png] Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.


[PMID 20031578OA-icon.png] 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.


[PMID 20154341OA-icon.png] Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.


[PMID 20383146OA-icon.png] New loci associated with kidney function and chronic kidney disease.


[PMID 21821508] Perioperative exacerbation of valproic acid-associated hyperammonemia: a clinical and genetic analysis.

GET Evidence
CPS1-T1406N
aa_change Thr1406Asn
aa_change_short T1406N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.329336
summary


GWAS snp
PMID [PMID 24651765OA-icon.png]
Trait Plasma homocysteine levels (post-methionine load test)
Title Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
Risk Allele A
P-val 9E-13
Odds Ratio .19 [0.12-0.26]
GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait HDL cholesterol
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele A
P-val 9E-10
Odds Ratio .03 [NR] unit decrease
ClinVar
Risk rs1047891(A;A)
Alt rs1047891(A;A)
Reference rs1047891(C;C)
Significance Other
Disease not specified
Variation info
Gene CPS1
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.211540507C>A
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000116832.3,