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rs121918711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918711(A;G)
Make rs121918711(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position99146553
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs121918711
ebirs121918711
HLIrs121918711
Exacrs121918711
Varsomers121918711
Maprs121918711
PheGenIrs121918711
hapmaprs121918711
1000 genomesrs121918711
hgdprs121918711
ensemblrs121918711
gopubmedrs121918711
geneviewrs121918711
scholarrs121918711
googlers121918711
pharmgkbrs121918711
gwascentralrs121918711
openSNPrs121918711
23andMers121918711
23andMe allrs121918711
SNP Nexus

SNPshotrs121918711
SNPdbers121918711
MSV3drs121918711
GWAS Ctlgrs121918711
Max Magnitude0
OMIM190181
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918711(G;G)
Alt rs121918711(G;G)
Reference rs121918711(A;A)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1
Reversed 0
HGVS NC_000009.11:g.101908835A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013346.24,