rs137852745

Orientation

plus

Stabilized

plus

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

Make rs137852745(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202552756

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852745
dbSNP (classic)	rs137852745
ClinGen	rs137852745
ebi	rs137852745
HLI	rs137852745
Exac	rs137852745
Gnomad	rs137852745
Varsome	rs137852745
LitVar	rs137852745
Map	rs137852745
PheGenI	rs137852745
Biobank	rs137852745
1000 genomes	rs137852745
hgdp	rs137852745
ensembl	rs137852745
geneview	rs137852745
scholar	rs137852745
google	rs137852745
pharmgkb	rs137852745
gwascentral	rs137852745
openSNP	rs137852745
23andMe	rs137852745
SNPshot	rs137852745
SNPdbe	rs137852745
MSV3d	rs137852745
GWAS Ctlg	rs137852745

Max Magnitude

6.2

aka c.1454A>G (p.Asp485Gly)

23andMe name: i5005631

OMIM	600799
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852745(G;G)
Alt	rs137852745(G;G)
Reference	Rs137852745(A;A)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203417479A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009346.2,