rs137852752

Orientation

plus

Stabilized

plus

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

Make rs137852752(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202556361

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852752
dbSNP (classic)	rs137852752
ClinGen	rs137852752
ebi	rs137852752
HLI	rs137852752
Exac	rs137852752
Gnomad	rs137852752
Varsome	rs137852752
LitVar	rs137852752
Map	rs137852752
PheGenI	rs137852752
Biobank	rs137852752
1000 genomes	rs137852752
hgdp	rs137852752
ensembl	rs137852752
geneview	rs137852752
scholar	rs137852752
google	rs137852752
pharmgkb	rs137852752
gwascentral	rs137852752
openSNP	rs137852752
23andMe	rs137852752
SNPshot	rs137852752
SNPdbe	rs137852752
MSV3d	rs137852752
GWAS Ctlg	rs137852752

GMAF

0.0009183

Max Magnitude

6.2

aka c.2696G>C (p.Arg899Pro)

23andMe name: i5005639

OMIM	600799
Desc
Variant	0018
Related	also

ClinVar
Risk	rs137852752(A;A) rs137852752(C;C)
Alt	rs137852752(A;A) rs137852752(C;C)
Reference	Rs137852752(G;G)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203421084G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009356.3,