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rs387907278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907278(A;A)
Make rs387907278(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position218437423
GeneTGFB2
is asnp
is mentioned by
dbSNPrs387907278
ebirs387907278
HLIrs387907278
Exacrs387907278
Varsomers387907278
Maprs387907278
PheGenIrs387907278
hapmaprs387907278
1000 genomesrs387907278
hgdprs387907278
ensemblrs387907278
gopubmedrs387907278
geneviewrs387907278
scholarrs387907278
googlers387907278
pharmgkbrs387907278
gwascentralrs387907278
openSNPrs387907278
23andMers387907278
23andMe allrs387907278
SNP Nexus

SNPshotrs387907278
SNPdbers387907278
MSV3drs387907278
GWAS Ctlgrs387907278
Max Magnitude0
ClinVar
Risk rs387907278(A;A)
Alt rs387907278(A;A)
Reference rs387907278(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218610765C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030732.25,