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rs104893812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 7 Loeys-Dietz Syndrome
(T;T) 0 common in clinvar


Make rs104893812(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672189
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893812
dbSNP (classic)rs104893812
ClinGenrs104893812
ebirs104893812
HLIrs104893812
Exacrs104893812
Gnomadrs104893812
Varsomers104893812
LitVarrs104893812
Maprs104893812
PheGenIrs104893812
Biobankrs104893812
1000 genomesrs104893812
hgdprs104893812
ensemblrs104893812
geneviewrs104893812
scholarrs104893812
googlers104893812
pharmgkbrs104893812
gwascentralrs104893812
openSNPrs104893812
23andMers104893812
SNPshotrs104893812
SNPdbers104893812
MSV3drs104893812
GWAS Ctlgrs104893812
Max Magnitude7
OMIM190182
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893812(A;A)
Alt rs104893812(A;A)
Reference Rs104893812(T;T)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30713681T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013332.24,