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rs863223829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AAG) 7 Loeys-Dietz Syndrome
(AGA;AGA) 0 common in clinvar
Make rs863223829(-;-)
Make rs863223829(AAG;AAG)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position99137967
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs863223829
dbSNP (classic)rs863223829
ClinGenrs863223829
ebirs863223829
HLIrs863223829
Exacrs863223829
Gnomadrs863223829
Varsomers863223829
LitVarrs863223829
Maprs863223829
PheGenIrs863223829
Biobankrs863223829
1000 genomesrs863223829
hgdprs863223829
ensemblrs863223829
geneviewrs863223829
scholarrs863223829
googlers863223829
pharmgkbrs863223829
gwascentralrs863223829
openSNPrs863223829
23andMers863223829
SNPshotrs863223829
SNPdbers863223829
MSV3drs863223829
GWAS Ctlgrs863223829
Max Magnitude7
ClinVar
Risk rs863223829(-;-)
Alt rs863223829(-;-)
Reference Rs863223829(AGA;AGA)
Significance Pathogenic
Disease not provided
Variation info
Gene TGFBR1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.101900249_101900251delAAG
CLNSRC
CLNACC RCV000197382.2,