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rs113605875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Loeys-Dietz Syndrome
(C;G) 7 Loeys-Dietz Syndrome
(G;G) 0 common in complete genomics


Make rs113605875(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position99149253
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs113605875
dbSNP (classic)rs113605875
ClinGenrs113605875
ebirs113605875
HLIrs113605875
Exacrs113605875
Gnomadrs113605875
Varsomers113605875
LitVarrs113605875
Maprs113605875
PheGenIrs113605875
Biobankrs113605875
1000 genomesrs113605875
hgdprs113605875
ensemblrs113605875
geneviewrs113605875
scholarrs113605875
googlers113605875
pharmgkbrs113605875
gwascentralrs113605875
openSNPrs113605875
23andMers113605875
SNPshotrs113605875
SNPdbers113605875
MSV3drs113605875
GWAS Ctlgrs113605875
Max Magnitude7
OMIM190181
Desc
Variant0004
Relatedalso
OMIM190181
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113605875(A;A) rs113605875(C;C) rs113605875(T;T)
Alt rs113605875(A;A) rs113605875(C;C) rs113605875(T;T)
Reference Rs113605875(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1 not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000009.11:g.101911535G>A; NC_000009.11:g.101911535G>C; NC_000009.11:g.101911535G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013351.26, RCV000196834.1, RCV000211857.1, RCV000463090.1, RCV000013348.25, RCV000417662.1,