rs387906856

Orientation

plus

Stabilized

plus

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

Make rs387906856(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

67187436

Gene

SMAD3

is a	snp
is	mentioned by
dbSNP	rs387906856
dbSNP (classic)	rs387906856
ClinGen	rs387906856
ebi	rs387906856
HLI	rs387906856
Exac	rs387906856
Gnomad	rs387906856
Varsome	rs387906856
LitVar	rs387906856
Map	rs387906856
PheGenI	rs387906856
Biobank	rs387906856
1000 genomes	rs387906856
hgdp	rs387906856
ensembl	rs387906856
geneview	rs387906856
scholar	rs387906856
google	rs387906856
pharmgkb	rs387906856
gwascentral	rs387906856
openSNP	rs387906856
23andMe	rs387906856
SNPshot	rs387906856
SNPdbe	rs387906856
MSV3d	rs387906856
GWAS Ctlg	rs387906856

Max Magnitude

7

ClinVar
Risk	rs387906856(A;A) rs387906856(C;C) rs387906856(T;T)
Alt	rs387906856(A;A) rs387906856(C;C) rs387906856(T;T)
Reference	Rs387906856(G;G)
Significance	Pathogenic
Disease	not provided not specified Loeys-Dietz syndrome 3
Variation	info
Gene	SMAD3
CLNDBN	not provided not specified Loeys-Dietz syndrome 3
Reversed	0
HGVS	NC_000015.9:g.67479774G>A; NC_000015.9:g.67479774G>C; NC_000015.9:g.67479774G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488339.1, RCV000200069.1, RCV000023250.3,