rs113605875

Orientation

plus

Stabilized

plus

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)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99149253

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs113605875
dbSNP (classic)	rs113605875
ClinGen	rs113605875
ebi	rs113605875
HLI	rs113605875
Exac	rs113605875
Gnomad	rs113605875
Varsome	rs113605875
LitVar	rs113605875
Map	rs113605875
PheGenI	rs113605875
Biobank	rs113605875
1000 genomes	rs113605875
hgdp	rs113605875
ensembl	rs113605875
geneview	rs113605875
scholar	rs113605875
google	rs113605875
pharmgkb	rs113605875
gwascentral	rs113605875
openSNP	rs113605875
23andMe	rs113605875
SNPshot	rs113605875
SNPdbe	rs113605875
MSV3d	rs113605875
GWAS Ctlg	rs113605875

Max Magnitude

7

OMIM	190181
Desc
Variant	0004
Related	also

OMIM	190181
Desc
Variant	0006
Related	also

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,