rs13146272

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs13146272(A;A)

Make rs13146272(A;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186199057

Gene

CYP4V2

is a	snp
is	mentioned by
dbSNP	rs13146272
dbSNP (classic)	rs13146272
ClinGen	rs13146272
ebi	rs13146272
HLI	rs13146272
Exac	rs13146272
Gnomad	rs13146272
Varsome	rs13146272
LitVar	rs13146272
Map	rs13146272
PheGenI	rs13146272
Biobank	rs13146272
1000 genomes	rs13146272
hgdp	rs13146272
ensembl	rs13146272
geneview	rs13146272
scholar	rs13146272
google	rs13146272
pharmgkb	rs13146272
gwascentral	rs13146272
openSNP	rs13146272
23andMe	rs13146272
SNPshot	rs13146272
SNPdbe	rs13146272
MSV3d	rs13146272
GWAS Ctlg	rs13146272

GMAF

0.4555

Max Magnitude

0

?

(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 20031567 ] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

[PMID 21232005 ] 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,

[PMID 30276487 ] Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population.