rs397514716

Orientation

minus

Stabilized

minus

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

Make rs397514716(C;T)

Make rs397514716(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

36865660

Gene

SMAD9

is a	snp
is	mentioned by
dbSNP	rs397514716
dbSNP (classic)	rs397514716
ClinGen	rs397514716
ebi	rs397514716
HLI	rs397514716
Exac	rs397514716
Gnomad	rs397514716
Varsome	rs397514716
LitVar	rs397514716
Map	rs397514716
PheGenI	rs397514716
Biobank	rs397514716
1000 genomes	rs397514716
hgdp	rs397514716
ensembl	rs397514716
geneview	rs397514716
scholar	rs397514716
google	rs397514716
pharmgkb	rs397514716
gwascentral	rs397514716
openSNP	rs397514716
23andMe	rs397514716
SNPshot	rs397514716
SNPdbe	rs397514716
MSV3d	rs397514716
GWAS Ctlg	rs397514716

Max Magnitude

0

ClinVar
Risk	rs397514716(T;T)
Alt	rs397514716(T;T)
Reference	Rs397514716(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension 2 not provided
Variation	info
Gene	SMAD9
CLNDBN	Primary pulmonary hypertension 2 not provided
Reversed	1
HGVS	NC_000013.10:g.37439797G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000050251.2, RCV000199596.2,

[PMID 30617053] Association of SNPs of BMPR2, ACVRL1, SMAD9  and their interactions with the risk of EH in the Chinese Han population.