Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893813(C;C)
Make rs104893813(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672246
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893813
ebirs104893813
HLIrs104893813
Exacrs104893813
Varsomers104893813
Maprs104893813
PheGenIrs104893813
hapmaprs104893813
1000 genomesrs104893813
hgdprs104893813
ensemblrs104893813
gopubmedrs104893813
geneviewrs104893813
scholarrs104893813
googlers104893813
pharmgkbrs104893813
gwascentralrs104893813
openSNPrs104893813
23andMers104893813
23andMe allrs104893813
SNP Nexus

SNPshotrs104893813
SNPdbers104893813
MSV3drs104893813
GWAS Ctlgrs104893813
Max Magnitude0
OMIM190182
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893813(C,T;C,T)
Alt rs104893813(C,T;C,T)
Reference rs104893813(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30713738G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013333.25,