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rs780788248

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780788248(A;A)
Make rs780788248(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006352
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs780788248
ebirs780788248
HLIrs780788248
Exacrs780788248
Varsomers780788248
Maprs780788248
PheGenIrs780788248
hapmaprs780788248
1000 genomesrs780788248
hgdprs780788248
ensemblrs780788248
gopubmedrs780788248
geneviewrs780788248
scholarrs780788248
googlers780788248
pharmgkbrs780788248
gwascentralrs780788248
openSNPrs780788248
23andMers780788248
23andMe allrs780788248
SNP Nexus

SNPshotrs780788248
SNPdbers780788248
MSV3drs780788248
GWAS Ctlgrs780788248
Max Magnitude0
ClinVar
Risk rs780788248(A;A)
Alt rs780788248(A;A)
Reference rs780788248(G;G)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene COL3A1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000002.11:g.189871078G>A
CLNSRC
CLNACC RCV000181105.1,