rs387907283

Orientation

plus

Stabilized

plus

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

Make rs387907283(G;T)

Make rs387907283(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

66781495

Gene

SMAD6

is a	snp
is	mentioned by
dbSNP	rs387907283
dbSNP (classic)	rs387907283
ClinGen	rs387907283
ebi	rs387907283
HLI	rs387907283
Exac	rs387907283
Gnomad	rs387907283
Varsome	rs387907283
LitVar	rs387907283
Map	rs387907283
PheGenI	rs387907283
Biobank	rs387907283
1000 genomes	rs387907283
hgdp	rs387907283
ensembl	rs387907283
geneview	rs387907283
scholar	rs387907283
google	rs387907283
pharmgkb	rs387907283
gwascentral	rs387907283
openSNP	rs387907283
23andMe	rs387907283
SNPshot	rs387907283
SNPdbe	rs387907283
MSV3d	rs387907283
GWAS Ctlg	rs387907283

Max Magnitude

0

ClinVar
Risk	rs387907283(T;T)
Alt	rs387907283(T;T)
Reference	Rs387907283(G;G)
Significance	Pathogenic
Disease	Aortic valve disease 2
Variation	info
Gene	SMAD6
CLNDBN	Aortic valve disease 2
Reversed	0
HGVS	NC_000015.9:g.67073833G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030753.2,