rs193922665

Orientation

plus

Stabilized

plus

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

Make rs193922665(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30650316

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs193922665
dbSNP (classic)	rs193922665
ClinGen	rs193922665
ebi	rs193922665
HLI	rs193922665
Exac	rs193922665
Gnomad	rs193922665
Varsome	rs193922665
LitVar	rs193922665
Map	rs193922665
PheGenI	rs193922665
Biobank	rs193922665
1000 genomes	rs193922665
hgdp	rs193922665
ensembl	rs193922665
geneview	rs193922665
scholar	rs193922665
google	rs193922665
pharmgkb	rs193922665
gwascentral	rs193922665
openSNP	rs193922665
23andMe	rs193922665
SNPshot	rs193922665
SNPdbe	rs193922665
MSV3d	rs193922665
GWAS Ctlg	rs193922665

Max Magnitude

7

ClinVar
Risk	rs193922665(T;T)
Alt	rs193922665(T;T)
Reference	Rs193922665(C;C)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000003.11:g.30691808C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030550.1,