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rs587777617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777617(C;T)
Make rs587777617(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position75963343
GeneTGFB3
is asnp
is mentioned by
dbSNPrs587777617
ebirs587777617
HLIrs587777617
Exacrs587777617
Varsomers587777617
Maprs587777617
PheGenIrs587777617
hapmaprs587777617
1000 genomesrs587777617
hgdprs587777617
ensemblrs587777617
gopubmedrs587777617
geneviewrs587777617
scholarrs587777617
googlers587777617
pharmgkbrs587777617
gwascentralrs587777617
openSNPrs587777617
23andMers587777617
23andMe allrs587777617
SNP Nexus

SNPshotrs587777617
SNPdbers587777617
MSV3drs587777617
GWAS Ctlgrs587777617
Max Magnitude0
ClinVar
Risk rs587777617(C,T;C,T)
Alt rs587777617(C,T;C,T)
Reference rs587777617(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 5 Loeys-Dietz syndrome 4
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 5 Loeys-Dietz syndrome 4
Reversed 1
HGVS NC_000014.8:g.76429686C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133467.3, RCV000227468.1,