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rs112901682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112901682(C;T)
Make rs112901682(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position88948816
GeneACTA2
is asnp
is mentioned by
dbSNPrs112901682
ebirs112901682
HLIrs112901682
Exacrs112901682
Varsomers112901682
Maprs112901682
PheGenIrs112901682
hapmaprs112901682
1000 genomesrs112901682
hgdprs112901682
ensemblrs112901682
gopubmedrs112901682
geneviewrs112901682
scholarrs112901682
googlers112901682
pharmgkbrs112901682
gwascentralrs112901682
openSNPrs112901682
23andMers112901682
23andMe allrs112901682
SNP Nexus

SNPshotrs112901682
SNPdbers112901682
MSV3drs112901682
GWAS Ctlgrs112901682
Max Magnitude0
ClinVar
Risk rs112901682(G,T;G,T)
Alt rs112901682(G,T;G,T)
Reference rs112901682(C;C)
Significance Pathogenic
Disease Aortic aneurysm Thoracic aortic aneurysm and aortic dissection
Variation info
Gene ACTA2 STAMBPL1
CLNDBN Aortic aneurysm, familial thoracic 6 Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000010.10:g.90708573G>A; NC_000010.10:g.90708573G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055647.27, RCV000143866.1, RCV000181014.1,