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

rs111426349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111426349(C;T)
Make rs111426349(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position99149252
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs111426349
ebirs111426349
HLIrs111426349
Exacrs111426349
Varsomers111426349
Maprs111426349
PheGenIrs111426349
hapmaprs111426349
1000 genomesrs111426349
hgdprs111426349
ensemblrs111426349
gopubmedrs111426349
geneviewrs111426349
scholarrs111426349
googlers111426349
pharmgkbrs111426349
gwascentralrs111426349
openSNPrs111426349
23andMers111426349
23andMe allrs111426349
SNP Nexus

SNPshotrs111426349
SNPdbers111426349
MSV3drs111426349
GWAS Ctlgrs111426349
Max Magnitude0
OMIM190181
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111426349(T;T)
Alt rs111426349(T;T)
Reference rs111426349(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome
Reversed 0
HGVS NC_000009.11:g.101911534C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013352.18, RCV000200764.2, RCV000211856.1,