rs104893817

Orientation

plus

Stabilized

plus

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

Make rs104893817(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30674123

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893817
dbSNP (classic)	rs104893817
ClinGen	rs104893817
ebi	rs104893817
HLI	rs104893817
Exac	rs104893817
Gnomad	rs104893817
Varsome	rs104893817
LitVar	rs104893817
Map	rs104893817
PheGenI	rs104893817
Biobank	rs104893817
1000 genomes	rs104893817
hgdp	rs104893817
ensembl	rs104893817
geneview	rs104893817
scholar	rs104893817
google	rs104893817
pharmgkb	rs104893817
gwascentral	rs104893817
openSNP	rs104893817
23andMe	rs104893817
SNPshot	rs104893817
SNPdbe	rs104893817
MSV3d	rs104893817
GWAS Ctlg	rs104893817

Max Magnitude

7

OMIM	190182
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104893817(G;G)
Alt	rs104893817(G;G)
Reference	Rs104893817(A;A)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30715615A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013342.18,