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rs796051885

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796051885(C;T)
Make rs796051885(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position75963344
GeneTGFB3
is asnp
is mentioned by
dbSNPrs796051885
ebirs796051885
HLIrs796051885
Exacrs796051885
Varsomers796051885
Maprs796051885
PheGenIrs796051885
hapmaprs796051885
1000 genomesrs796051885
hgdprs796051885
ensemblrs796051885
gopubmedrs796051885
geneviewrs796051885
scholarrs796051885
googlers796051885
pharmgkbrs796051885
gwascentralrs796051885
openSNPrs796051885
23andMers796051885
23andMe allrs796051885
SNP Nexus

SNPshotrs796051885
SNPdbers796051885
MSV3drs796051885
GWAS Ctlgrs796051885
Max Magnitude0
ClinVar
Risk rs796051885(T;T)
Alt rs796051885(T;T)
Reference rs796051885(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 5
Variation info
Gene TGFB3
CLNDBN Loeys-Dietz syndrome 5
Reversed 1
HGVS NC_000014.8:g.76429687G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000185630.3,