rs104893815

Orientation

plus

Stabilized

plus

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

Make rs104893815(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30691478

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893815
dbSNP (classic)	rs104893815
ClinGen	rs104893815
ebi	rs104893815
HLI	rs104893815
Exac	rs104893815
Gnomad	rs104893815
Varsome	rs104893815
LitVar	rs104893815
Map	rs104893815
PheGenI	rs104893815
Biobank	rs104893815
1000 genomes	rs104893815
hgdp	rs104893815
ensembl	rs104893815
geneview	rs104893815
scholar	rs104893815
google	rs104893815
pharmgkb	rs104893815
gwascentral	rs104893815
openSNP	rs104893815
23andMe	rs104893815
SNPshot	rs104893815
SNPdbe	rs104893815
MSV3d	rs104893815
GWAS Ctlg	rs104893815

Max Magnitude

7

OMIM	190182
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893815(A;A)
Alt	rs104893815(A;A)
Reference	Rs104893815(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2 Hereditary nonpolyposis colorectal cancer type 6 not provided Loeys-Dietz syndrome
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2 Hereditary nonpolyposis colorectal cancer type 6 not provided Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000003.11:g.30732970G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013335.27, RCV000013336.6, RCV000200178.3, RCV000211858.1,