Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906852

From SNPedia

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


Make rs387906852(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position67181418
GeneSMAD3
is asnp
is mentioned by
dbSNPrs387906852
dbSNP (classic)rs387906852
ClinGenrs387906852
ebirs387906852
HLIrs387906852
Exacrs387906852
Gnomadrs387906852
Varsomers387906852
LitVarrs387906852
Maprs387906852
PheGenIrs387906852
Biobankrs387906852
1000 genomesrs387906852
hgdprs387906852
ensemblrs387906852
geneviewrs387906852
scholarrs387906852
googlers387906852
pharmgkbrs387906852
gwascentralrs387906852
openSNPrs387906852
23andMers387906852
SNPshotrs387906852
SNPdbers387906852
MSV3drs387906852
GWAS Ctlgrs387906852
Max Magnitude7
ClinVar
Risk rs387906852(A;A)
Alt rs387906852(A;A)
Reference Rs387906852(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.67473756G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023245.3,