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rs869025531

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025531(C;T)
Make rs869025531(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position218405213
GeneTGFB2
is asnp
is mentioned by
dbSNPrs869025531
ebirs869025531
HLIrs869025531
Exacrs869025531
Varsomers869025531
Maprs869025531
PheGenIrs869025531
hapmaprs869025531
1000 genomesrs869025531
hgdprs869025531
ensemblrs869025531
gopubmedrs869025531
geneviewrs869025531
scholarrs869025531
googlers869025531
pharmgkbrs869025531
gwascentralrs869025531
openSNPrs869025531
23andMers869025531
23andMe allrs869025531
SNP Nexus

SNPshotrs869025531
SNPdbers869025531
MSV3drs869025531
GWAS Ctlgrs869025531
Max Magnitude0
ClinVar
Risk rs869025531(T;T)
Alt rs869025531(T;T)
Reference rs869025531(C;C)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000001.10:g.218578555C>T
CLNSRC
CLNACC RCV000208340.1,