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rs121918710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918710(G;G)
Make rs121918710(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position99142683
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs121918710
ebirs121918710
HLIrs121918710
Exacrs121918710
Varsomers121918710
Maprs121918710
PheGenIrs121918710
hapmaprs121918710
1000 genomesrs121918710
hgdprs121918710
ensemblrs121918710
gopubmedrs121918710
geneviewrs121918710
scholarrs121918710
googlers121918710
pharmgkbrs121918710
gwascentralrs121918710
openSNPrs121918710
23andMers121918710
23andMe allrs121918710
SNP Nexus

SNPshotrs121918710
SNPdbers121918710
MSV3drs121918710
GWAS Ctlgrs121918710
Max Magnitude0
OMIM190181
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918710(G;G)
Alt rs121918710(G;G)
Reference rs121918710(T;T)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1
Reversed 0
HGVS NC_000009.11:g.101904965T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000119102.2,