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rs121918713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918713(G;T)
Make rs121918713(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position99132686
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs121918713
ebirs121918713
HLIrs121918713
Exacrs121918713
Varsomers121918713
Maprs121918713
PheGenIrs121918713
hapmaprs121918713
1000 genomesrs121918713
hgdprs121918713
ensemblrs121918713
gopubmedrs121918713
geneviewrs121918713
scholarrs121918713
googlers121918713
pharmgkbrs121918713
gwascentralrs121918713
openSNPrs121918713
23andMers121918713
23andMe allrs121918713
SNP Nexus

SNPshotrs121918713
SNPdbers121918713
MSV3drs121918713
GWAS Ctlgrs121918713
Max Magnitude0
OMIM190181
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918713(T;T)
Alt rs121918713(T;T)
Reference rs121918713(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1
Reversed 0
HGVS NC_000009.11:g.101894968G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013353.17,