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rs397516840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516840(G;T)
Make rs397516840(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30688482
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs397516840
ebirs397516840
HLIrs397516840
Exacrs397516840
Varsomers397516840
Maprs397516840
PheGenIrs397516840
hapmaprs397516840
1000 genomesrs397516840
hgdprs397516840
ensemblrs397516840
gopubmedrs397516840
geneviewrs397516840
scholarrs397516840
googlers397516840
pharmgkbrs397516840
gwascentralrs397516840
openSNPrs397516840
23andMers397516840
23andMe allrs397516840
SNP Nexus

SNPshotrs397516840
SNPdbers397516840
MSV3drs397516840
GWAS Ctlgrs397516840
Max Magnitude0
ClinVar
Risk rs397516840(T;T)
Alt rs397516840(T;T)
Reference rs397516840(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30729974G>T
CLNSRC ClinVar
CLNACC RCV000037735.2,