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rs398122884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TACAA;TACAA) 0 common in clinvar
Make rs398122884(-;-)
Make rs398122884(-;TACAA)
ReferenceGRCh38 38.1/141
Chromosome1
Position218437431
GeneTGFB2
is asnp
is mentioned by
dbSNPrs398122884
ebirs398122884
HLIrs398122884
Exacrs398122884
Varsomers398122884
Maprs398122884
PheGenIrs398122884
hapmaprs398122884
1000 genomesrs398122884
hgdprs398122884
ensemblrs398122884
gopubmedrs398122884
geneviewrs398122884
scholarrs398122884
googlers398122884
pharmgkbrs398122884
gwascentralrs398122884
openSNPrs398122884
23andMers398122884
23andMe allrs398122884
SNP Nexus

SNPshotrs398122884
SNPdbers398122884
MSV3drs398122884
GWAS Ctlgrs398122884
Max Magnitude0
ClinVar
Risk rs398122884(;)
Alt rs398122884(;)
Reference rs398122884(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,