rs587777617

Orientation

plus

Stabilized

minus

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

Make rs587777617(C;T)

Make rs587777617(T;T)

Reference

GRCh38 38.1/142

Chromosome

14

Position

75963343

Gene

TGFB3

is a	snp
is	mentioned by
dbSNP	rs587777617
dbSNP (classic)	rs587777617
ClinGen	rs587777617
ebi	rs587777617
HLI	rs587777617
Exac	rs587777617
Gnomad	rs587777617
Varsome	rs587777617
LitVar	rs587777617
Map	rs587777617
PheGenI	rs587777617
Biobank	rs587777617
1000 genomes	rs587777617
hgdp	rs587777617
ensembl	rs587777617
geneview	rs587777617
scholar	rs587777617
google	rs587777617
pharmgkb	rs587777617
gwascentral	rs587777617
openSNP	rs587777617
23andMe	rs587777617
SNPshot	rs587777617
SNPdbe	rs587777617
MSV3d	rs587777617
GWAS Ctlg	rs587777617

Max Magnitude

7

ClinVar
Risk	Rs587777617(C;C) rs587777617(T;T)
Alt	Rs587777617(C;C) rs587777617(T;T)
Reference	Rs587777617(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 5 Loeys-Dietz syndrome 4 not provided
Variation	info
Gene	TGFB3
CLNDBN	Loeys-Dietz syndrome 5 Loeys-Dietz syndrome 4 not provided
Reversed	1
HGVS	NC_000014.8:g.76429686C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000133467.4, RCV000227468.1, RCV000417684.1,