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rs398122883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTACGCCAAGGAGGT;CTACGCCAAGGAGGT) 0 common in clinvar
Make rs398122883(-;-)
Make rs398122883(-;CTACGCCAAGGAGGT)
ReferenceGRCh38 38.1/141
Chromosome1
Position218346995
GeneTGFB2, TGFB2-AS1
is asnp
is mentioned by
dbSNPrs398122883
dbSNP (classic)rs398122883
ClinGenrs398122883
ebirs398122883
HLIrs398122883
Exacrs398122883
Gnomadrs398122883
Varsomers398122883
LitVarrs398122883
Maprs398122883
PheGenIrs398122883
Biobankrs398122883
1000 genomesrs398122883
hgdprs398122883
ensemblrs398122883
geneviewrs398122883
scholarrs398122883
googlers398122883
pharmgkbrs398122883
gwascentralrs398122883
openSNPrs398122883
23andMers398122883
SNPshotrs398122883
SNPdbers398122883
MSV3drs398122883
GWAS Ctlgrs398122883
Max Magnitude0
ClinVar
Risk rs398122883(-;-)
Alt rs398122883(-;-)
Reference Rs398122883(CTACGCCAAGGAGGT;CTACGCCAAGGAGGT)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4 Holt-Oram syndrome
Variation info
Gene TGFB2 TGFB2-AS1
CLNDBN Loeys-Dietz syndrome 4 Holt-Oram syndrome
Reversed 0
HGVS NC_000001.10:g.218520337_218520351delCTACGCCAAGGAGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030733.26, RCV000468724.1,