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rs104893817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893817(A;G)
Make rs104893817(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30674123
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893817
ebirs104893817
HLIrs104893817
Exacrs104893817
Varsomers104893817
Maprs104893817
PheGenIrs104893817
hapmaprs104893817
1000 genomesrs104893817
hgdprs104893817
ensemblrs104893817
gopubmedrs104893817
geneviewrs104893817
scholarrs104893817
googlers104893817
pharmgkbrs104893817
gwascentralrs104893817
openSNPrs104893817
23andMers104893817
23andMe allrs104893817
SNP Nexus

SNPshotrs104893817
SNPdbers104893817
MSV3drs104893817
GWAS Ctlgrs104893817
Max Magnitude0
OMIM190182
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104893817(G;G)
Alt rs104893817(G;G)
Reference rs104893817(A;A)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30715615A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013342.18,