rs387906851

Orientation

plus

Stabilized

plus

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

Make rs387906851(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

67181364

Gene

SMAD3

is a	snp
is	mentioned by
dbSNP	rs387906851
dbSNP (classic)	rs387906851
ClinGen	rs387906851
ebi	rs387906851
HLI	rs387906851
Exac	rs387906851
Gnomad	rs387906851
Varsome	rs387906851
LitVar	rs387906851
Map	rs387906851
PheGenI	rs387906851
Biobank	rs387906851
1000 genomes	rs387906851
hgdp	rs387906851
ensembl	rs387906851
geneview	rs387906851
scholar	rs387906851
google	rs387906851
pharmgkb	rs387906851
gwascentral	rs387906851
openSNP	rs387906851
23andMe	rs387906851
SNPshot	rs387906851
SNPdbe	rs387906851
MSV3d	rs387906851
GWAS Ctlg	rs387906851

Max Magnitude

7

ClinVar
Risk	rs387906851(T;T)
Alt	rs387906851(T;T)
Reference	Rs387906851(C;C)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 3
Variation	info
Gene	SMAD3
CLNDBN	Loeys-Dietz syndrome 3
Reversed	0
HGVS	NC_000015.9:g.67473702C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023243.3,