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

rs700651

From SNPedia

rs700651 associated with increased risk of developing intracranial aneurysm.
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Normal risk of aneurysm
(A;G) 1.5 ~1.11x increased risk of intracranial aneurysm
(G;G) 2 ~1.23x increased risk of intracranial aneurysm
ReferenceGRCh38 38.1/141
Chromosome2
Position197766990
GeneBOLL
is asnp
is mentioned by
dbSNPrs700651
dbSNP (classic)rs700651
ClinGenrs700651
ebirs700651
HLIrs700651
Exacrs700651
Gnomadrs700651
Varsomers700651
LitVarrs700651
Maprs700651
PheGenIrs700651
Biobankrs700651
1000 genomesrs700651
hgdprs700651
ensemblrs700651
geneviewrs700651
scholarrs700651
googlers700651
pharmgkbrs700651
gwascentralrs700651
openSNPrs700651
23andMers700651
SNPshotrs700651
SNPdbers700651
MSV3drs700651
GWAS Ctlgrs700651
GMAF0.3021
Max Magnitude2
? (A;A) (A;G) (G;G) 28


a larger meta-analysis in 2013 gave rs700651 a per allele OR of 1.11; 95% CI 1.06 -1.18. See PMC3716358

23andMe blog aneurysm

GWAS snp
PMID [PMID 18997786OA-icon.png]
Trait Intracranial aneurysm
Title Susceptibility loci for intracranial aneurysm in European and Japanese populations
Risk Allele G
P-val 4E-8
Odds Ratio 1.24 [1.15-1.34]
OMIM612586
DescANEURYSM, INTRACRANIAL BERRY, 9
Variant
Relatedalso


[PMID 20395613] Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients.

Increased risk of intracranial (brain aneurysm) with certain SNPs. rs700651(G;G) associated with 1.56x risk of developing an intracranial aneurysm (IA). Heterozygote risk is 1.18x. Other SNPs associated with increased risk of developing IA include rs1333040 and rs10958409.

rs10958409 is located on chromosome 9; rs1333040 is located on chromosome 8; rs700651 is located on chromosome 2.

Unfortunately, the first sign of an intracranial aneurysm is rupture. Catastrophic bleeding and death may result. Specific knowledge of risk may influence screening decision. More information: Intracranial aneurysm screening: indications and advice for practice. [PMID 15664544]. [PMID 22476622] Increased risk of stroke in oral contraceptive users carried replicated genetic variants: a population-based case-control study in China.


[PMID 30823506OA-icon.png] Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.