rs104893814

Orientation

plus

Stabilized

plus

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

Make rs104893814(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30672252

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893814
dbSNP (classic)	rs104893814
ClinGen	rs104893814
ebi	rs104893814
HLI	rs104893814
Exac	rs104893814
Gnomad	rs104893814
Varsome	rs104893814
LitVar	rs104893814
Map	rs104893814
PheGenI	rs104893814
Biobank	rs104893814
1000 genomes	rs104893814
hgdp	rs104893814
ensembl	rs104893814
geneview	rs104893814
scholar	rs104893814
google	rs104893814
pharmgkb	rs104893814
gwascentral	rs104893814
openSNP	rs104893814
23andMe	rs104893814
SNPshot	rs104893814
SNPdbe	rs104893814
MSV3d	rs104893814
GWAS Ctlg	rs104893814

Max Magnitude

7

OMIM	190182
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893814(T;T)
Alt	rs104893814(T;T)
Reference	Rs104893814(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.30713744G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013334.18,