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rs104893812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893812(A;A)
Make rs104893812(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672189
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893812
ebirs104893812
HLIrs104893812
Exacrs104893812
Varsomers104893812
Maprs104893812
PheGenIrs104893812
hapmaprs104893812
1000 genomesrs104893812
hgdprs104893812
ensemblrs104893812
gopubmedrs104893812
geneviewrs104893812
scholarrs104893812
googlers104893812
pharmgkbrs104893812
gwascentralrs104893812
openSNPrs104893812
23andMers104893812
23andMe allrs104893812
SNP Nexus

SNPshotrs104893812
SNPdbers104893812
MSV3drs104893812
GWAS Ctlgrs104893812
Max Magnitude0
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
CLNACC RCV000013332.24,