rs137852744

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.2	Pulmonary arterial hypertension
(G;G)	0	common in clinvar

Make rs137852744(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202530866

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852744
dbSNP (classic)	rs137852744
ClinGen	rs137852744
ebi	rs137852744
HLI	rs137852744
Exac	rs137852744
Gnomad	rs137852744
Varsome	rs137852744
LitVar	rs137852744
Map	rs137852744
PheGenI	rs137852744
Biobank	rs137852744
1000 genomes	rs137852744
hgdp	rs137852744
ensembl	rs137852744
geneview	rs137852744
scholar	rs137852744
google	rs137852744
pharmgkb	rs137852744
gwascentral	rs137852744
openSNP	rs137852744
23andMe	rs137852744
SNPshot	rs137852744
SNPdbe	rs137852744
MSV3d	rs137852744
GWAS Ctlg	rs137852744

Max Magnitude

6.2

aka c.1040G>A (p.Cys347Tyr)

23andMe name: i5005630

OMIM	600799
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852744(A;A)
Alt	rs137852744(A;A)
Reference	Rs137852744(G;G)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203395589G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009345.3,