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rs869312904

From SNPedia

Orientationplus
Geno Mag Summary
(TACAA;TACAA) 0 common in clinvar
Make rs869312904(-;-)
Make rs869312904(-;ACAAT)
Make rs869312904(ACAAT;ACAAT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position218437432
GeneTGFB2
is asnp
is mentioned by
dbSNPrs869312904
ebirs869312904
HLIrs869312904
Exacrs869312904
Varsomers869312904
Maprs869312904
PheGenIrs869312904
hapmaprs869312904
1000 genomesrs869312904
hgdprs869312904
ensemblrs869312904
gopubmedrs869312904
geneviewrs869312904
scholarrs869312904
googlers869312904
pharmgkbrs869312904
gwascentralrs869312904
openSNPrs869312904
23andMers869312904
23andMe allrs869312904
SNP Nexus

SNPshotrs869312904
SNPdbers869312904
MSV3drs869312904
GWAS Ctlgrs869312904
Max Magnitude0
ClinVar
Risk rs869312904(;)
Alt rs869312904(;)
Reference rs869312904(TACAA;TACAA)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218610774_218610778delACAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210478.2,