rs387907278

Orientation

plus

Stabilized

plus

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

Make rs387907278(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

218437423

Gene

TGFB2

is a	snp
is	mentioned by
dbSNP	rs387907278
dbSNP (classic)	rs387907278
ClinGen	rs387907278
ebi	rs387907278
HLI	rs387907278
Exac	rs387907278
Gnomad	rs387907278
Varsome	rs387907278
LitVar	rs387907278
Map	rs387907278
PheGenI	rs387907278
Biobank	rs387907278
1000 genomes	rs387907278
hgdp	rs387907278
ensembl	rs387907278
geneview	rs387907278
scholar	rs387907278
google	rs387907278
pharmgkb	rs387907278
gwascentral	rs387907278
openSNP	rs387907278
23andMe	rs387907278
SNPshot	rs387907278
SNPdbe	rs387907278
MSV3d	rs387907278
GWAS Ctlg	rs387907278

Max Magnitude

7

ClinVar
Risk	rs387907278(A;A)
Alt	rs387907278(A;A)
Reference	Rs387907278(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 4
Variation	info
Gene	TGFB2
CLNDBN	Loeys-Dietz syndrome 4
Reversed	0
HGVS	NC_000001.10:g.218610765C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030732.25,