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rs730880223

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880223(A;G)
Make rs730880223(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position99149237
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs730880223
ebirs730880223
HLIrs730880223
Exacrs730880223
Varsomers730880223
Maprs730880223
PheGenIrs730880223
hapmaprs730880223
1000 genomesrs730880223
hgdprs730880223
ensemblrs730880223
gopubmedrs730880223
geneviewrs730880223
scholarrs730880223
googlers730880223
pharmgkbrs730880223
gwascentralrs730880223
openSNPrs730880223
23andMers730880223
23andMe allrs730880223
SNP Nexus

SNPshotrs730880223
SNPdbers730880223
MSV3drs730880223
GWAS Ctlgrs730880223
Max Magnitude0
ClinVar
Risk rs730880223(G;G)
Alt rs730880223(G;G)
Reference rs730880223(A;A)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000009.11:g.101911519A>G
CLNSRC
CLNACC RCV000157517.1,