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rs587782979

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782979(A;A)
Make rs587782979(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30674232
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs587782979
ebirs587782979
HLIrs587782979
Exacrs587782979
Varsomers587782979
Maprs587782979
PheGenIrs587782979
hapmaprs587782979
1000 genomesrs587782979
hgdprs587782979
ensemblrs587782979
gopubmedrs587782979
geneviewrs587782979
scholarrs587782979
googlers587782979
pharmgkbrs587782979
gwascentralrs587782979
openSNPrs587782979
23andMers587782979
23andMe allrs587782979
SNP Nexus

SNPshotrs587782979
SNPdbers587782979
MSV3drs587782979
GWAS Ctlgrs587782979
Max Magnitude0
ClinVar
Risk rs587782979(A;A)
Alt rs587782979(A;A)
Reference rs587782979(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30715724G>A
CLNSRC
CLNACC RCV000143955.1,