rs104893809

Orientation

plus

Stabilized

plus

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

Make rs104893809(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30691504

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893809
dbSNP (classic)	rs104893809
ClinGen	rs104893809
ebi	rs104893809
HLI	rs104893809
Exac	rs104893809
Gnomad	rs104893809
Varsome	rs104893809
LitVar	rs104893809
Map	rs104893809
PheGenI	rs104893809
Biobank	rs104893809
1000 genomes	rs104893809
hgdp	rs104893809
ensembl	rs104893809
geneview	rs104893809
scholar	rs104893809
google	rs104893809
pharmgkb	rs104893809
gwascentral	rs104893809
openSNP	rs104893809
23andMe	rs104893809
SNPshot	rs104893809
SNPdbe	rs104893809
MSV3d	rs104893809
GWAS Ctlg	rs104893809

Merged from

Rs28934869

Max Magnitude

7

OMIM	190182
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893809(T;T)
Alt	rs104893809(T;T)
Reference	Rs104893809(C;C)
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.30732996C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013331.18, RCV000196289.2,