rs137852753

Orientation

plus

Stabilized

plus

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

Make rs137852753(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202518831

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852753
dbSNP (classic)	rs137852753
ClinGen	rs137852753
ebi	rs137852753
HLI	rs137852753
Exac	rs137852753
Gnomad	rs137852753
Varsome	rs137852753
LitVar	rs137852753
Map	rs137852753
PheGenI	rs137852753
Biobank	rs137852753
1000 genomes	rs137852753
hgdp	rs137852753
ensembl	rs137852753
geneview	rs137852753
scholar	rs137852753
google	rs137852753
pharmgkb	rs137852753
gwascentral	rs137852753
openSNP	rs137852753
23andMe	rs137852753
SNPshot	rs137852753
SNPdbe	rs137852753
MSV3d	rs137852753
GWAS Ctlg	rs137852753

Max Magnitude

6.2

aka c.631C>T (p.Arg211Ter)

23andMe name: i5005640

OMIM	600799
Desc
Variant	0019
Related	also

ClinVar
Risk	rs137852753(T;T)
Alt	rs137852753(T;T)
Reference	Rs137852753(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension Pulmonary hypertension not provided
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension Pulmonary hypertension, primary, dexfenfluramine-associated not provided
Reversed	0
HGVS	NC_000002.11:g.203383554C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009357.3, RCV000009358.4, RCV000197776.4,