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rs112602953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar
Make rs112602953(C;C)
Make rs112602953(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position88943813
GeneACTA2
is asnp
is mentioned by
dbSNPrs112602953
dbSNP (classic)rs112602953
ClinGenrs112602953
ebirs112602953
HLIrs112602953
Exacrs112602953
Gnomadrs112602953
Varsomers112602953
LitVarrs112602953
Maprs112602953
PheGenIrs112602953
Biobankrs112602953
1000 genomesrs112602953
hgdprs112602953
ensemblrs112602953
geneviewrs112602953
scholarrs112602953
googlers112602953
pharmgkbrs112602953
gwascentralrs112602953
openSNPrs112602953
23andMers112602953
SNPshotrs112602953
SNPdbers112602953
MSV3drs112602953
GWAS Ctlgrs112602953
Max Magnitude6.5
ClinVar
Risk rs112602953(A;A) rs112602953(C;C)
Alt rs112602953(A;A) rs112602953(C;C)
Reference Rs112602953(G;G)
Significance Pathogenic
Disease not provided Aortic aneurysm
Variation info
Gene ACTA2 STAMBPL1
CLNDBN not provided Aortic aneurysm, familial thoracic 6
Reversed 1
HGVS NC_000010.10:g.90703570C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000181019.3, RCV000234479.2,