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rs104893818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893818(C;T)
Make rs104893818(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30674130
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893818
ebirs104893818
HLIrs104893818
Exacrs104893818
Varsomers104893818
Maprs104893818
PheGenIrs104893818
hapmaprs104893818
1000 genomesrs104893818
hgdprs104893818
ensemblrs104893818
gopubmedrs104893818
geneviewrs104893818
scholarrs104893818
googlers104893818
pharmgkbrs104893818
gwascentralrs104893818
openSNPrs104893818
23andMers104893818
23andMe allrs104893818
SNP Nexus

SNPshotrs104893818
SNPdbers104893818
MSV3drs104893818
GWAS Ctlgrs104893818
Max Magnitude0
OMIM190182
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104893818(T;T)
Alt rs104893818(T;T)
Reference rs104893818(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.30715622C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013343.24,