rs397516840

Orientation

plus

Stabilized

plus

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

Make rs397516840(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30688482

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs397516840
dbSNP (classic)	rs397516840
ClinGen	rs397516840
ebi	rs397516840
HLI	rs397516840
Exac	rs397516840
Gnomad	rs397516840
Varsome	rs397516840
LitVar	rs397516840
Map	rs397516840
PheGenI	rs397516840
Biobank	rs397516840
1000 genomes	rs397516840
hgdp	rs397516840
ensembl	rs397516840
geneview	rs397516840
scholar	rs397516840
google	rs397516840
pharmgkb	rs397516840
gwascentral	rs397516840
openSNP	rs397516840
23andMe	rs397516840
SNPshot	rs397516840
SNPdbe	rs397516840
MSV3d	rs397516840
GWAS Ctlg	rs397516840

Max Magnitude

7

ClinVar
Risk	rs397516840(T;T)
Alt	rs397516840(T;T)
Reference	Rs397516840(G;G)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000003.11:g.30729974G>T
CLNSRC	ClinVar
CLNACC	RCV000037735.2,