rs34833812

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs34833812(C;T)

Make rs34833812(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30672127

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs34833812
dbSNP (classic)	rs34833812
ClinGen	rs34833812
ebi	rs34833812
HLI	rs34833812
Exac	rs34833812
Gnomad	rs34833812
Varsome	rs34833812
LitVar	rs34833812
Map	rs34833812
PheGenI	rs34833812
Biobank	rs34833812
1000 genomes	rs34833812
hgdp	rs34833812
ensembl	rs34833812
geneview	rs34833812
scholar	rs34833812
google	rs34833812
pharmgkb	rs34833812
gwascentral	rs34833812
openSNP	rs34833812
23andMe	rs34833812
SNPshot	rs34833812
SNPdbe	rs34833812
MSV3d	rs34833812
GWAS Ctlg	rs34833812

GMAF

0.005969

Max Magnitude

0

OMIM	190182
Desc
Variant	0002
Related	also

ClinVar
Risk	rs34833812(T;T)
Alt	rs34833812(T;T)
Reference	Rs34833812(C;C)
Significance	Other
Disease	Hereditary nonpolyposis colorectal cancer type 6 Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Marfan syndrome not specified
Variation	info
Gene	TGFBR2
CLNDBN	Hereditary nonpolyposis colorectal cancer type 6 Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome Marfan syndrome not specified
Reversed	0
HGVS	NC_000003.11:g.30713619C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013325.23, RCV000247266.2, RCV000290470.1, RCV000344037.1, RCV000418265.1,