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rs587776881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 7 Loeys-Dietz Syndrome
(A;A) 0 common in clinvar


Make rs587776881(-;-)
ReferenceGRCh38 38.1/142
Chromosome15
Position67170599
GeneSMAD3
is asnp
is mentioned by
dbSNPrs587776881
dbSNP (classic)rs587776881
ClinGenrs587776881
ebirs587776881
HLIrs587776881
Exacrs587776881
Gnomadrs587776881
Varsomers587776881
LitVarrs587776881
Maprs587776881
PheGenIrs587776881
Biobankrs587776881
1000 genomesrs587776881
hgdprs587776881
ensemblrs587776881
geneviewrs587776881
scholarrs587776881
googlers587776881
pharmgkbrs587776881
gwascentralrs587776881
openSNPrs587776881
23andMers587776881
SNPshotrs587776881
SNPdbers587776881
MSV3drs587776881
GWAS Ctlgrs587776881
Max Magnitude7
ClinVar
Risk rs587776881(-;-)
Alt rs587776881(-;-)
Reference Rs587776881(A;A)
Significance Pathogenic
Disease Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67462937delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023244.3,