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rs104893819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893819(C;T)
Make rs104893819(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30688470
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs104893819
ebirs104893819
HLIrs104893819
Exacrs104893819
Varsomers104893819
Maprs104893819
PheGenIrs104893819
hapmaprs104893819
1000 genomesrs104893819
hgdprs104893819
ensemblrs104893819
gopubmedrs104893819
geneviewrs104893819
scholarrs104893819
googlers104893819
pharmgkbrs104893819
gwascentralrs104893819
openSNPrs104893819
23andMers104893819
23andMe allrs104893819
SNP Nexus

SNPshotrs104893819
SNPdbers104893819
MSV3drs104893819
GWAS Ctlgrs104893819
Max Magnitude0
OMIM190182
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104893819(T;T)
Alt rs104893819(T;T)
Reference rs104893819(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2 Loeys-Dietz syndrome not provided
Reversed 0
HGVS NC_000003.11:g.30729962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013344.24, RCV000157519.1, RCV000195964.1,