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

rs13146272

From SNPedia

Orientationplus
Stabilizedplus
Make rs13146272(A;A)
Make rs13146272(A;C)
Make rs13146272(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position186199057
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs13146272
ebirs13146272
HLIrs13146272
Exacrs13146272
Varsomers13146272
Maprs13146272
PheGenIrs13146272
hapmaprs13146272
1000 genomesrs13146272
hgdprs13146272
ensemblrs13146272
gopubmedrs13146272
geneviewrs13146272
scholarrs13146272
googlers13146272
pharmgkbrs13146272
gwascentralrs13146272
openSNPrs13146272
23andMers13146272
23andMe allrs13146272
SNP Nexus

SNPshotrs13146272
SNPdbers13146272
MSV3drs13146272
GWAS Ctlgrs13146272
GMAF0.4555
Max Magnitude
? (A;A) (A;C) (C;C) 28
Gene variants associated with deep vein thrombosis.[PMID 18349091]

Updated analysis of gene variants associated with deep vein thrombosis.[PMID 20124536]

  • rs13146272 in CYP4V2 (risk allele frequency, 0.64) OR 1.24 (95% CI, 1.11-1.37) for rs13146272
  • rs2227589 in SERPINC1 (risk allele frequency, 0.10) OR 1.29 (95% CI, 1.10-1.49) for rs2227589
  • rs1613662 in GP6 (risk allele frequency, 0.84) OR 1.15 (95% CI, 1.01-1.30) for rs1613662

A study of 453 VTE cases and 1,327 controls was able to replicate the "mild effects" of this SNP on risk for VTE, however they felt that stronger associations were found between increased VTE risk and either the Factor V Leiden mutation (rs6025)or having blood types O or A2.[PMID 19278955]


Venter snp
Source plos
Gene CYP4V2
allele A
frequency
sift TOLERATED
HuRef 1103654656495
Disease Association Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) (MIM:210370). BCD is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most cases have similar crystals at the corneoscleral limbus. Clinically, BCD is progressive. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, patients develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.



[PMID 20031567OA-icon.png] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

[PMID 21232005OA-icon.png] New gene variants associated with venous thrombosis: a replication study in White and Black Americans.


GET Evidence
CYP4V2-Q259K
aa_change Gln259Lys
aa_change_short Q259K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.622815
summary



[PMID 25091233] Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia