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rs587776882

From SNPedia

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


Make rs587776882(-;-)
ReferenceGRCh38 38.1/142
Chromosome15
Position67165001
GeneSMAD3
is asnp
is mentioned by
dbSNPrs587776882
dbSNP (classic)rs587776882
ClinGenrs587776882
ebirs587776882
HLIrs587776882
Exacrs587776882
Gnomadrs587776882
Varsomers587776882
LitVarrs587776882
Maprs587776882
PheGenIrs587776882
Biobankrs587776882
1000 genomesrs587776882
hgdprs587776882
ensemblrs587776882
geneviewrs587776882
scholarrs587776882
googlers587776882
pharmgkbrs587776882
gwascentralrs587776882
openSNPrs587776882
23andMers587776882
SNPshotrs587776882
SNPdbers587776882
MSV3drs587776882
GWAS Ctlgrs587776882
Max Magnitude7
ClinVar
Risk rs587776882(-;-)
Alt rs587776882(-;-)
Reference Rs587776882(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67457339delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023248.4,