rs104893813

Orientation

plus

Stabilized

plus

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

Make rs104893813(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30672246

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893813
dbSNP (classic)	rs104893813
ClinGen	rs104893813
ebi	rs104893813
HLI	rs104893813
Exac	rs104893813
Gnomad	rs104893813
Varsome	rs104893813
LitVar	rs104893813
Map	rs104893813
PheGenI	rs104893813
Biobank	rs104893813
1000 genomes	rs104893813
hgdp	rs104893813
ensembl	rs104893813
geneview	rs104893813
scholar	rs104893813
google	rs104893813
pharmgkb	rs104893813
gwascentral	rs104893813
openSNP	rs104893813
23andMe	rs104893813
SNPshot	rs104893813
SNPdbe	rs104893813
MSV3d	rs104893813
GWAS Ctlg	rs104893813

Max Magnitude

7

OMIM	190182
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893813(A;A) rs104893813(C;C) rs104893813(T;T)
Alt	rs104893813(A;A) rs104893813(C;C) rs104893813(T;T)
Reference	Rs104893813(G;G)
Significance	Pathogenic
Disease	not specified Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	not specified Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30713738G>A; NC_000003.11:g.30713738G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000426608.1, RCV000013333.25,