rs121918712

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7	Loeys-Dietz Syndrome

Make rs121918712(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99137883

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs121918712
dbSNP (classic)	rs121918712
ClinGen	rs121918712
ebi	rs121918712
HLI	rs121918712
Exac	rs121918712
Gnomad	rs121918712
Varsome	rs121918712
LitVar	rs121918712
Map	rs121918712
PheGenI	rs121918712
Biobank	rs121918712
1000 genomes	rs121918712
hgdp	rs121918712
ensembl	rs121918712
geneview	rs121918712
scholar	rs121918712
google	rs121918712
pharmgkb	rs121918712
gwascentral	rs121918712
openSNP	rs121918712
23andMe	rs121918712
SNPshot	rs121918712
SNPdbe	rs121918712
MSV3d	rs121918712
GWAS Ctlg	rs121918712

Max Magnitude

7

OMIM	190181
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918712(T;T)
Alt	rs121918712(T;T)
Reference	Rs121918712(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 1
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1
Reversed	0
HGVS	NC_000009.11:g.101900165C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013347.24,