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rs730880214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880214(A;A)
Make rs730880214(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position67181442
GeneSMAD3
is asnp
is mentioned by
dbSNPrs730880214
dbSNP (classic)rs730880214
ClinGenrs730880214
ebirs730880214
HLIrs730880214
Exacrs730880214
Gnomadrs730880214
Varsomers730880214
LitVarrs730880214
Maprs730880214
PheGenIrs730880214
Biobankrs730880214
1000 genomesrs730880214
hgdprs730880214
ensemblrs730880214
geneviewrs730880214
scholarrs730880214
googlers730880214
pharmgkbrs730880214
gwascentralrs730880214
openSNPrs730880214
23andMers730880214
SNPshotrs730880214
SNPdbers730880214
MSV3drs730880214
GWAS Ctlgrs730880214
Max Magnitude0
ClinVar
Risk rs730880214(A;A)
Alt rs730880214(A;A)
Reference Rs730880214(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome not provided
Variation info
Gene SMAD3
CLNDBN Loeys-Dietz syndrome not provided
Reversed 0
HGVS NC_000015.9:g.67473780G>A
CLNSRC
CLNACC RCV000157501.1, RCV000197902.4,