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rs104893816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893816(A;A)
Make rs104893816(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30674229
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893816
ebirs104893816
HLIrs104893816
Exacrs104893816
Varsomers104893816
Maprs104893816
PheGenIrs104893816
hapmaprs104893816
1000 genomesrs104893816
hgdprs104893816
ensemblrs104893816
gopubmedrs104893816
geneviewrs104893816
scholarrs104893816
googlers104893816
pharmgkbrs104893816
gwascentralrs104893816
openSNPrs104893816
23andMers104893816
23andMe allrs104893816
SNP Nexus

SNPshotrs104893816
SNPdbers104893816
MSV3drs104893816
GWAS Ctlgrs104893816
Max Magnitude0
OMIM190182
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104893816(A;A)
Alt rs104893816(A;A)
Reference rs104893816(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2 not provided
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2 not provided
Reversed 0
HGVS NC_000003.11:g.30715721G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013340.26, RCV000196002.2,