rs104893812

Orientation

plus

Stabilized

plus

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

Make rs104893812(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30672189

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs104893812
dbSNP (classic)	rs104893812
ClinGen	rs104893812
ebi	rs104893812
HLI	rs104893812
Exac	rs104893812
Gnomad	rs104893812
Varsome	rs104893812
LitVar	rs104893812
Map	rs104893812
PheGenI	rs104893812
Biobank	rs104893812
1000 genomes	rs104893812
hgdp	rs104893812
ensembl	rs104893812
geneview	rs104893812
scholar	rs104893812
google	rs104893812
pharmgkb	rs104893812
gwascentral	rs104893812
openSNP	rs104893812
23andMe	rs104893812
SNPshot	rs104893812
SNPdbe	rs104893812
MSV3d	rs104893812
GWAS Ctlg	rs104893812

Max Magnitude

7

OMIM	190182
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893812(A;A)
Alt	rs104893812(A;A)
Reference	Rs104893812(T;T)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30713681T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013332.24,