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rs587776880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587776880(-;-)
Make rs587776880(-;AT)
ReferenceGRCh38 38.1/142
Chromosome15
Position67181323
GeneSMAD3
is asnp
is mentioned by
dbSNPrs587776880
ebirs587776880
HLIrs587776880
Exacrs587776880
Varsomers587776880
Maprs587776880
PheGenIrs587776880
hapmaprs587776880
1000 genomesrs587776880
hgdprs587776880
ensemblrs587776880
gopubmedrs587776880
geneviewrs587776880
scholarrs587776880
googlers587776880
pharmgkbrs587776880
gwascentralrs587776880
openSNPrs587776880
23andMers587776880
23andMe allrs587776880
SNP Nexus

SNPshotrs587776880
SNPdbers587776880
MSV3drs587776880
GWAS Ctlgrs587776880
Max Magnitude0
ClinVar
Risk rs587776880(;)
Alt rs587776880(;)
Reference rs587776880(AT;AT)
Significance Pathogenic
Disease Loeys-Dietz syndrome 3
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome 3
Reversed 0
HGVS NC_000015.9:g.67473661_67473662delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023242.4,