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rs28934568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3
(T;T) 0 common in clinvar
Make rs28934568(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672106
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs28934568
ebirs28934568
HLIrs28934568
Exacrs28934568
Varsomers28934568
Maprs28934568
PheGenIrs28934568
hapmaprs28934568
1000 genomesrs28934568
hgdprs28934568
ensemblrs28934568
gopubmedrs28934568
geneviewrs28934568
scholarrs28934568
googlers28934568
pharmgkbrs28934568
gwascentralrs28934568
openSNPrs28934568
23andMers28934568
23andMe allrs28934568
SNP Nexus

SNPshotrs28934568
SNPdbers28934568
MSV3drs28934568
GWAS Ctlgrs28934568
Max Magnitude3
OMIM190182
DescMARFAN SYNDROME, TYPE II
Variant0005
Relatedalso


ClinVar
Risk rs28934568(C;C)
Alt rs28934568(C;C)
Reference rs28934568(T;T)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30713598T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013329.25,