rs104893818

Orientation

plus

Stabilized

plus

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

Make rs104893818(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30674130

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893818
dbSNP (classic)	rs104893818
ClinGen	rs104893818
ebi	rs104893818
HLI	rs104893818
Exac	rs104893818
Gnomad	rs104893818
Varsome	rs104893818
LitVar	rs104893818
Map	rs104893818
PheGenI	rs104893818
Biobank	rs104893818
1000 genomes	rs104893818
hgdp	rs104893818
ensembl	rs104893818
geneview	rs104893818
scholar	rs104893818
google	rs104893818
pharmgkb	rs104893818
gwascentral	rs104893818
openSNP	rs104893818
23andMe	rs104893818
SNPshot	rs104893818
SNPdbe	rs104893818
MSV3d	rs104893818
GWAS Ctlg	rs104893818

Max Magnitude

7

OMIM	190182
Desc
Variant	0018
Related	also

ClinVar
Risk	rs104893818(T;T)
Alt	rs104893818(T;T)
Reference	Rs104893818(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30715622C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013343.24,