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rs730880224

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880224(C;T)
Make rs730880224(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30674127
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs730880224
ebirs730880224
HLIrs730880224
Exacrs730880224
Varsomers730880224
Maprs730880224
PheGenIrs730880224
hapmaprs730880224
1000 genomesrs730880224
hgdprs730880224
ensemblrs730880224
gopubmedrs730880224
geneviewrs730880224
scholarrs730880224
googlers730880224
pharmgkbrs730880224
gwascentralrs730880224
openSNPrs730880224
23andMers730880224
23andMe allrs730880224
SNP Nexus

SNPshotrs730880224
SNPdbers730880224
MSV3drs730880224
GWAS Ctlgrs730880224
Max Magnitude0
ClinVar
Risk rs730880224(A,T;A,T)
Alt rs730880224(A,T;A,T)
Reference rs730880224(C;C)
Significance Pathogenic
Disease not provided Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN not provided Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30715619C>A; NC_000003.11:g.30715619C>T
CLNSRC
CLNACC RCV000199365.1, RCV000157518.1,