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rs104893809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893809(C;T)
Make rs104893809(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30691504
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893809
ebirs104893809
HLIrs104893809
Exacrs104893809
Varsomers104893809
Maprs104893809
PheGenIrs104893809
hapmaprs104893809
1000 genomesrs104893809
hgdprs104893809
ensemblrs104893809
gopubmedrs104893809
geneviewrs104893809
scholarrs104893809
googlers104893809
pharmgkbrs104893809
gwascentralrs104893809
openSNPrs104893809
23andMers104893809
23andMe allrs104893809
SNP Nexus

SNPshotrs104893809
SNPdbers104893809
MSV3drs104893809
GWAS Ctlgrs104893809
Merged fromRs28934869
Max Magnitude0
OMIM190182
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893809(T;T)
Alt rs104893809(T;T)
Reference rs104893809(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.30732996C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013331.18, RCV000196289.1,