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rs730880213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880213(A;C)
Make rs730880213(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position67066323
GeneSMAD3
is asnp
is mentioned by
dbSNPrs730880213
dbSNP (old)rs730880213
ClinGenrs730880213
ebirs730880213
HLIrs730880213
Exacrs730880213
Gnomadrs730880213
Varsomers730880213
Maprs730880213
PheGenIrs730880213
Biobankrs730880213
1000 genomesrs730880213
hgdprs730880213
ensemblrs730880213
gopubmedrs730880213
geneviewrs730880213
scholarrs730880213
googlers730880213
pharmgkbrs730880213
gwascentralrs730880213
openSNPrs730880213
23andMers730880213
23andMe allrs730880213
SNP Nexus

SNPshotrs730880213
SNPdbers730880213
MSV3drs730880213
GWAS Ctlgrs730880213
Max Magnitude0
ClinVar
Risk rs730880213(C;C)
Alt rs730880213(C;C)
Reference Rs730880213(A;A)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000015.9:g.67358661A>C
CLNSRC
CLNACC RCV000157500.2,