rs121918713

Orientation

plus

Stabilized

plus

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

Make rs121918713(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

99132686

Gene

TGFBR1

is a	snp
is	mentioned by
dbSNP	rs121918713
dbSNP (classic)	rs121918713
ClinGen	rs121918713
ebi	rs121918713
HLI	rs121918713
Exac	rs121918713
Gnomad	rs121918713
Varsome	rs121918713
LitVar	rs121918713
Map	rs121918713
PheGenI	rs121918713
Biobank	rs121918713
1000 genomes	rs121918713
hgdp	rs121918713
ensembl	rs121918713
geneview	rs121918713
scholar	rs121918713
google	rs121918713
pharmgkb	rs121918713
gwascentral	rs121918713
openSNP	rs121918713
23andMe	rs121918713
SNPshot	rs121918713
SNPdbe	rs121918713
MSV3d	rs121918713
GWAS Ctlg	rs121918713

Max Magnitude

7

OMIM	190181
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918713(T;T)
Alt	rs121918713(T;T)
Reference	Rs121918713(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 1
Variation	info
Gene	TGFBR1
CLNDBN	Loeys-Dietz syndrome 1
Reversed	0
HGVS	NC_000009.11:g.101894968G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013353.17,