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rs869025533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 7 Loeys-Dietz Syndrome
Make rs869025533(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position218405192
GeneTGFB2
is asnp
is mentioned by
dbSNPrs869025533
dbSNP (classic)rs869025533
ClinGenrs869025533
ebirs869025533
HLIrs869025533
Exacrs869025533
Gnomadrs869025533
Varsomers869025533
LitVarrs869025533
Maprs869025533
PheGenIrs869025533
Biobankrs869025533
1000 genomesrs869025533
hgdprs869025533
ensemblrs869025533
geneviewrs869025533
scholarrs869025533
googlers869025533
pharmgkbrs869025533
gwascentralrs869025533
openSNPrs869025533
23andMers869025533
SNPshotrs869025533
SNPdbers869025533
MSV3drs869025533
GWAS Ctlgrs869025533
Max Magnitude7
ClinVar
Risk rs869025533(A;A)
Alt rs869025533(A;A)
Reference Rs869025533(-;-)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000001.10:g.218578534dupA
CLNSRC
CLNACC RCV000208163.1,