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rs886040965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs886040965(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position122075443
GeneLOX, SRFBP1
is asnp
is mentioned by
dbSNPrs886040965
dbSNP (classic)rs886040965
ClinGenrs886040965
ebirs886040965
HLIrs886040965
Exacrs886040965
Gnomadrs886040965
Varsomers886040965
LitVarrs886040965
Maprs886040965
PheGenIrs886040965
Biobankrs886040965
1000 genomesrs886040965
hgdprs886040965
ensemblrs886040965
geneviewrs886040965
scholarrs886040965
googlers886040965
pharmgkbrs886040965
gwascentralrs886040965
openSNPrs886040965
23andMers886040965
SNPshotrs886040965
SNPdbers886040965
MSV3drs886040965
GWAS Ctlgrs886040965
Max Magnitude6.5

aka c.839G>T (p.Ser280Ile)

ClinVar
Risk rs886040965(T;T)
Alt rs886040965(T;T)
Reference Rs886040965(G;G)
Significance Pathogenic
Disease Aortic aneurysm
Variation info
Gene LOX
CLNDBN Aortic aneurysm, familial thoracic 10
Reversed 1
HGVS NC_000005.9:g.121411138C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000258025.1,