rs121918711

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	7	Loeys-Dietz Syndrome

Make rs121918711(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99146553

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs121918711
dbSNP (classic)	rs121918711
ClinGen	rs121918711
ebi	rs121918711
HLI	rs121918711
Exac	rs121918711
Gnomad	rs121918711
Varsome	rs121918711
LitVar	rs121918711
Map	rs121918711
PheGenI	rs121918711
Biobank	rs121918711
1000 genomes	rs121918711
hgdp	rs121918711
ensembl	rs121918711
geneview	rs121918711
scholar	rs121918711
google	rs121918711
pharmgkb	rs121918711
gwascentral	rs121918711
openSNP	rs121918711
23andMe	rs121918711
SNPshot	rs121918711
SNPdbe	rs121918711
MSV3d	rs121918711
GWAS Ctlg	rs121918711

Max Magnitude

7

OMIM	190181
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918711(G;G)
Alt	rs121918711(G;G)
Reference	Rs121918711(A;A)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 1
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1
Reversed	0
HGVS	NC_000009.11:g.101908835A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013346.24,