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rs796051886

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796051886(C;C)
Make rs796051886(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position75963455
GeneTGFB3
is asnp
is mentioned by
dbSNPrs796051886
ebirs796051886
HLIrs796051886
Exacrs796051886
Varsomers796051886
Maprs796051886
PheGenIrs796051886
hapmaprs796051886
1000 genomesrs796051886
hgdprs796051886
ensemblrs796051886
gopubmedrs796051886
geneviewrs796051886
scholarrs796051886
googlers796051886
pharmgkbrs796051886
gwascentralrs796051886
openSNPrs796051886
23andMers796051886
23andMe allrs796051886
SNP Nexus

SNPshotrs796051886
SNPdbers796051886
MSV3drs796051886
GWAS Ctlgrs796051886
Max Magnitude0
ClinVar
Risk rs796051886(C;C)
Alt rs796051886(C;C)
Reference rs796051886(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 5
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 5
Reversed 1
HGVS NC_000014.8:g.76429798C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185632.2,