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rs387906592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906592(A;A)
Make rs387906592(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position88941309
GeneACTA2
is asnp
is mentioned by
dbSNPrs387906592
ebirs387906592
HLIrs387906592
Exacrs387906592
Varsomers387906592
Maprs387906592
PheGenIrs387906592
hapmaprs387906592
1000 genomesrs387906592
hgdprs387906592
ensemblrs387906592
gopubmedrs387906592
geneviewrs387906592
scholarrs387906592
googlers387906592
pharmgkbrs387906592
gwascentralrs387906592
openSNPrs387906592
23andMers387906592
23andMe allrs387906592
SNP Nexus

SNPshotrs387906592
SNPdbers387906592
MSV3drs387906592
GWAS Ctlgrs387906592
Max Magnitude0
ClinVar
Risk rs387906592(A;A)
Alt rs387906592(A;A)
Reference rs387906592(G;G)
Significance Pathogenic
Disease Multisystemic smooth muscle dysfunction syndrome Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection not provided Aortic aneurysm
Variation info
Gene ACTA2 STAMBPL1
CLNDBN Multisystemic smooth muscle dysfunction syndrome Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection not provided Aortic aneurysm, familial thoracic 6
Reversed 1
HGVS NC_000010.10:g.90701066C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022437.27, RCV000022438.27, RCV000181023.2, RCV000211886.1, RCV000228180.1,