rs104893810

Orientation

plus

Stabilized

plus

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

Make rs104893810(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30691477

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893810
dbSNP (classic)	rs104893810
ClinGen	rs104893810
ebi	rs104893810
HLI	rs104893810
Exac	rs104893810
Gnomad	rs104893810
Varsome	rs104893810
LitVar	rs104893810
Map	rs104893810
PheGenI	rs104893810
Biobank	rs104893810
1000 genomes	rs104893810
hgdp	rs104893810
ensembl	rs104893810
geneview	rs104893810
scholar	rs104893810
google	rs104893810
pharmgkb	rs104893810
gwascentral	rs104893810
openSNP	rs104893810
23andMe	rs104893810
SNPshot	rs104893810
SNPdbe	rs104893810
MSV3d	rs104893810
GWAS Ctlg	rs104893810

Max Magnitude

7

OMIM	190182
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893810(T;T)
Alt	rs104893810(T;T)
Reference	Rs104893810(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.30732969C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013337.18, RCV000197944.1,