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rs104893811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893811(C;T)
Make rs104893811(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30674228
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893811
ebirs104893811
HLIrs104893811
Exacrs104893811
Varsomers104893811
Maprs104893811
PheGenIrs104893811
hapmaprs104893811
1000 genomesrs104893811
hgdprs104893811
ensemblrs104893811
gopubmedrs104893811
geneviewrs104893811
scholarrs104893811
googlers104893811
pharmgkbrs104893811
gwascentralrs104893811
openSNPrs104893811
23andMers104893811
23andMe allrs104893811
SNP Nexus

SNPshotrs104893811
SNPdbers104893811
MSV3drs104893811
GWAS Ctlgrs104893811
Max Magnitude0
OMIM190182
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893811(T;T)
Alt rs104893811(T;T)
Reference rs104893811(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2 not provided
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2 not provided
Reversed 0
HGVS NC_000003.11:g.30715720C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013339.23, RCV000199227.1,