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rs121918715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918715(A;A)
Make rs121918715(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30688511
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs121918715
ebirs121918715
HLIrs121918715
Exacrs121918715
Varsomers121918715
Maprs121918715
PheGenIrs121918715
hapmaprs121918715
1000 genomesrs121918715
hgdprs121918715
ensemblrs121918715
gopubmedrs121918715
geneviewrs121918715
scholarrs121918715
googlers121918715
pharmgkbrs121918715
gwascentralrs121918715
openSNPrs121918715
23andMers121918715
23andMe allrs121918715
SNP Nexus

SNPshotrs121918715
SNPdbers121918715
MSV3drs121918715
GWAS Ctlgrs121918715
Max Magnitude0
OMIM190182
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918715(A;A)
Alt rs121918715(A;A)
Reference rs121918715(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.30730003G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013327.26,