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rs730880221

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880221(C;T)
Make rs730880221(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position218434115
GeneTGFB2
is asnp
is mentioned by
dbSNPrs730880221
ebirs730880221
HLIrs730880221
Exacrs730880221
Varsomers730880221
Maprs730880221
PheGenIrs730880221
hapmaprs730880221
1000 genomesrs730880221
hgdprs730880221
ensemblrs730880221
gopubmedrs730880221
geneviewrs730880221
scholarrs730880221
googlers730880221
pharmgkbrs730880221
gwascentralrs730880221
openSNPrs730880221
23andMers730880221
23andMe allrs730880221
SNP Nexus

SNPshotrs730880221
SNPdbers730880221
MSV3drs730880221
GWAS Ctlgrs730880221
Max Magnitude0
ClinVar
Risk rs730880221(T;T)
Alt rs730880221(T;T)
Reference rs730880221(C;C)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000001.10:g.218607457C>T
CLNSRC
CLNACC RCV000157514.1,