rs397514715

Orientation

minus

Stabilized

minus

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

Make rs397514715(A;G)

Make rs397514715(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

36879563

Gene

SMAD9

is a	snp
is	mentioned by
dbSNP	rs397514715
dbSNP (classic)	rs397514715
ClinGen	rs397514715
ebi	rs397514715
HLI	rs397514715
Exac	rs397514715
Gnomad	rs397514715
Varsome	rs397514715
LitVar	rs397514715
Map	rs397514715
PheGenI	rs397514715
Biobank	rs397514715
1000 genomes	rs397514715
hgdp	rs397514715
ensembl	rs397514715
geneview	rs397514715
scholar	rs397514715
google	rs397514715
pharmgkb	rs397514715
gwascentral	rs397514715
openSNP	rs397514715
23andMe	rs397514715
SNPshot	rs397514715
SNPdbe	rs397514715
MSV3d	rs397514715
GWAS Ctlg	rs397514715

Max Magnitude

0

ClinVar
Risk	rs397514715(G;G)
Alt	rs397514715(G;G)
Reference	Rs397514715(A;A)
Significance	Pathogenic
Disease	Primary pulmonary hypertension 2
Variation	info
Gene	SMAD9
CLNDBN	Primary pulmonary hypertension 2
Reversed	1
HGVS	NC_000013.10:g.37453700T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000050250.2,