rs875989816

Orientation

minus

Stabilized

minus

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

Make rs875989816(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

75965586

Gene

TGFB3

is a	snp
is	mentioned by
dbSNP	rs875989816
dbSNP (classic)	rs875989816
ClinGen	rs875989816
ebi	rs875989816
HLI	rs875989816
Exac	rs875989816
Gnomad	rs875989816
Varsome	rs875989816
LitVar	rs875989816
Map	rs875989816
PheGenI	rs875989816
Biobank	rs875989816
1000 genomes	rs875989816
hgdp	rs875989816
ensembl	rs875989816
geneview	rs875989816
scholar	rs875989816
google	rs875989816
pharmgkb	rs875989816
gwascentral	rs875989816
openSNP	rs875989816
23andMe	rs875989816
SNPshot	rs875989816
SNPdbe	rs875989816
MSV3d	rs875989816
GWAS Ctlg	rs875989816

Max Magnitude

7

ClinVar
Risk	rs875989816(C;C)
Alt	rs875989816(C;C)
Reference	Rs875989816(T;T)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 5
Variation	info
Gene	TGFB3
CLNDBN	Loeys-Dietz syndrome 5
Reversed	1
HGVS	NC_000014.8:g.76431929A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185629.3,