rs121918715

Orientation

plus

Stabilized

plus

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

Make rs121918715(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30688511

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs121918715
dbSNP (classic)	rs121918715
ClinGen	rs121918715
ebi	rs121918715
HLI	rs121918715
Exac	rs121918715
Gnomad	rs121918715
Varsome	rs121918715
LitVar	rs121918715
Map	rs121918715
PheGenI	rs121918715
Biobank	rs121918715
1000 genomes	rs121918715
hgdp	rs121918715
ensembl	rs121918715
geneview	rs121918715
scholar	rs121918715
google	rs121918715
pharmgkb	rs121918715
gwascentral	rs121918715
openSNP	rs121918715
23andMe	rs121918715
SNPshot	rs121918715
SNPdbe	rs121918715
MSV3d	rs121918715
GWAS Ctlg	rs121918715

Max Magnitude

7

OMIM	190182
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918715(A;A)
Alt	rs121918715(A;A)
Reference	Rs121918715(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30730003G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013327.26,