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rs121918712

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918712(C;T)
Make rs121918712(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position99137883
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs121918712
ebirs121918712
HLIrs121918712
Exacrs121918712
Varsomers121918712
Maprs121918712
PheGenIrs121918712
hapmaprs121918712
1000 genomesrs121918712
hgdprs121918712
ensemblrs121918712
gopubmedrs121918712
geneviewrs121918712
scholarrs121918712
googlers121918712
pharmgkbrs121918712
gwascentralrs121918712
openSNPrs121918712
23andMers121918712
23andMe allrs121918712
SNP Nexus

SNPshotrs121918712
SNPdbers121918712
MSV3drs121918712
GWAS Ctlgrs121918712
Max Magnitude0
OMIM190181
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918712(T;T)
Alt rs121918712(T;T)
Reference rs121918712(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1
Reversed 0
HGVS NC_000009.11:g.101900165C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013347.24,