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rs730880215

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880215(A;A)
Make rs730880215(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position67181453
GeneSMAD3
is asnp
is mentioned by
dbSNPrs730880215
ebirs730880215
HLIrs730880215
Exacrs730880215
Varsomers730880215
Maprs730880215
PheGenIrs730880215
hapmaprs730880215
1000 genomesrs730880215
hgdprs730880215
ensemblrs730880215
gopubmedrs730880215
geneviewrs730880215
scholarrs730880215
googlers730880215
pharmgkbrs730880215
gwascentralrs730880215
openSNPrs730880215
23andMers730880215
23andMe allrs730880215
SNP Nexus

SNPshotrs730880215
SNPdbers730880215
MSV3drs730880215
GWAS Ctlgrs730880215
Max Magnitude0
ClinVar
Risk rs730880215(A;A)
Alt rs730880215(A;A)
Reference rs730880215(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000015.9:g.67473791G>A
CLNSRC
CLNACC RCV000157502.1,