rs121918710

Orientation

plus

Stabilized

plus

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

Make rs121918710(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99142683

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs121918710
dbSNP (classic)	rs121918710
ClinGen	rs121918710
ebi	rs121918710
HLI	rs121918710
Exac	rs121918710
Gnomad	rs121918710
Varsome	rs121918710
LitVar	rs121918710
Map	rs121918710
PheGenI	rs121918710
Biobank	rs121918710
1000 genomes	rs121918710
hgdp	rs121918710
ensembl	rs121918710
geneview	rs121918710
scholar	rs121918710
google	rs121918710
pharmgkb	rs121918710
gwascentral	rs121918710
openSNP	rs121918710
23andMe	rs121918710
SNPshot	rs121918710
SNPdbe	rs121918710
MSV3d	rs121918710
GWAS Ctlg	rs121918710

Max Magnitude

7

OMIM	190181
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918710(G;G)
Alt	rs121918710(G;G)
Reference	Rs121918710(T;T)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 1
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1
Reversed	0
HGVS	NC_000009.11:g.101904965T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119102.2,