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rs398122984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122984(A;A)
Make rs398122984(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position75959200
GeneTGFB3
is asnp
is mentioned by
dbSNPrs398122984
ebirs398122984
HLIrs398122984
Exacrs398122984
Varsomers398122984
Maprs398122984
PheGenIrs398122984
hapmaprs398122984
1000 genomesrs398122984
hgdprs398122984
ensemblrs398122984
gopubmedrs398122984
geneviewrs398122984
scholarrs398122984
googlers398122984
pharmgkbrs398122984
gwascentralrs398122984
openSNPrs398122984
23andMers398122984
23andMe allrs398122984
SNP Nexus

SNPshotrs398122984
SNPdbers398122984
MSV3drs398122984
GWAS Ctlgrs398122984
Max Magnitude0
ClinVar
Risk rs398122984(A;A)
Alt rs398122984(A;A)
Reference rs398122984(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.76425543C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077765.5,