Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893807(C;T)
Make rs104893807(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30674196
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893807
ebirs104893807
HLIrs104893807
Exacrs104893807
Varsomers104893807
Maprs104893807
PheGenIrs104893807
hapmaprs104893807
1000 genomesrs104893807
hgdprs104893807
ensemblrs104893807
gopubmedrs104893807
geneviewrs104893807
scholarrs104893807
googlers104893807
pharmgkbrs104893807
gwascentralrs104893807
openSNPrs104893807
23andMers104893807
23andMe allrs104893807
SNP Nexus

SNPshotrs104893807
SNPdbers104893807
MSV3drs104893807
GWAS Ctlgrs104893807
Max Magnitude0
OMIM190182
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893807(T;T)
Alt rs104893807(T;T)
Reference rs104893807(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30715688C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013330.26,