rs387906854

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs387906854(C;T)

Make rs387906854(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

67165023

Gene

SMAD3

is a	snp
is	mentioned by
dbSNP	rs387906854
dbSNP (classic)	rs387906854
ClinGen	rs387906854
ebi	rs387906854
HLI	rs387906854
Exac	rs387906854
Gnomad	rs387906854
Varsome	rs387906854
LitVar	rs387906854
Map	rs387906854
PheGenI	rs387906854
Biobank	rs387906854
1000 genomes	rs387906854
hgdp	rs387906854
ensembl	rs387906854
geneview	rs387906854
scholar	rs387906854
google	rs387906854
pharmgkb	rs387906854
gwascentral	rs387906854
openSNP	rs387906854
23andMe	rs387906854
SNPshot	rs387906854
SNPdbe	rs387906854
MSV3d	rs387906854
GWAS Ctlg	rs387906854

Max Magnitude

0

ClinVar
Risk	rs387906854(T;T)
Alt	rs387906854(T;T)
Reference	Rs387906854(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.67457361C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023247.3,