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rs3742207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3742207(A;C)
Make rs3742207(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position110166251
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs3742207
ebirs3742207
HLIrs3742207
Exacrs3742207
Varsomers3742207
Maprs3742207
PheGenIrs3742207
hapmaprs3742207
1000 genomesrs3742207
hgdprs3742207
ensemblrs3742207
gopubmedrs3742207
geneviewrs3742207
scholarrs3742207
googlers3742207
pharmgkbrs3742207
gwascentralrs3742207
openSNPrs3742207
23andMers3742207
23andMe allrs3742207
SNP Nexus

SNPshotrs3742207
SNPdbers3742207
MSV3drs3742207
GWAS Ctlgrs3742207
GMAF0.2925
Max Magnitude0
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 20031579OA-icon.png]
Trait Arterial stiffness
Title COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan
Risk Allele C
P-val 5E-8
Odds Ratio 21.00 [11.79-30.21] cm/s increase


[PMID 19679263OA-icon.png] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.


GET Evidence
COL4A1-Q1334H
aa_change Gln1334His
aa_change_short Q1334H
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.324689
summary This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.



ClinVar
Risk rs3742207(C;C)
Alt rs3742207(C;C)
Reference rs3742207(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL4A1
CLNDBN not specified
Reversed 1
HGVS NC_000013.10:g.110818598T>G
CLNSRC
CLNACC RCV000178573.1,