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rs13146272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs13146272(A;A)
Make rs13146272(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position186199057
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs13146272
dbSNP (old)rs13146272
ClinGenrs13146272
ebirs13146272
HLIrs13146272
Exacrs13146272
Gnomadrs13146272
Varsomers13146272
Maprs13146272
PheGenIrs13146272
Biobankrs13146272
1000 genomesrs13146272
hgdprs13146272
ensemblrs13146272
gopubmedrs13146272
geneviewrs13146272
scholarrs13146272
googlers13146272
pharmgkbrs13146272
gwascentralrs13146272
openSNPrs13146272
23andMers13146272
23andMe allrs13146272
SNPshotrs13146272
SNPdbers13146272
MSV3drs13146272
GWAS Ctlgrs13146272
GMAF0.4555
Max Magnitude0
? (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]


[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.



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


ClinVar
Risk rs13146272(A;A)
Alt rs13146272(A;A)
Reference Rs13146272(C;C)
Significance Non-pathogenic
Disease not specified Bietti crystalline corneoretinal dystrophy Corneal Dystrophy
Variation info
Gene CYP4V2
CLNDBN not specified Bietti crystalline corneoretinal dystrophy Corneal Dystrophy, Recessive
Reversed 0
HGVS NC_000004.11:g.187120211C>A
CLNSRC
CLNACC RCV000244699.1, RCV000268361.1, RCV000358574.1,