rs104893816

Orientation

plus

Stabilized

plus

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

Make rs104893816(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30674229

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893816
dbSNP (classic)	rs104893816
ClinGen	rs104893816
ebi	rs104893816
HLI	rs104893816
Exac	rs104893816
Gnomad	rs104893816
Varsome	rs104893816
LitVar	rs104893816
Map	rs104893816
PheGenI	rs104893816
Biobank	rs104893816
1000 genomes	rs104893816
hgdp	rs104893816
ensembl	rs104893816
geneview	rs104893816
scholar	rs104893816
google	rs104893816
pharmgkb	rs104893816
gwascentral	rs104893816
openSNP	rs104893816
23andMe	rs104893816
SNPshot	rs104893816
SNPdbe	rs104893816
MSV3d	rs104893816
GWAS Ctlg	rs104893816

Max Magnitude

7

OMIM	190182
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104893816(A;A)
Alt	rs104893816(A;A)
Reference	Rs104893816(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2 not provided
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2 not provided
Reversed	0
HGVS	NC_000003.11:g.30715721G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013340.26, RCV000196002.3,