rs137852751

Orientation

plus

Stabilized

plus

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

Make rs137852751(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202530820

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852751
dbSNP (classic)	rs137852751
ClinGen	rs137852751
ebi	rs137852751
HLI	rs137852751
Exac	rs137852751
Gnomad	rs137852751
Varsome	rs137852751
LitVar	rs137852751
Map	rs137852751
PheGenI	rs137852751
Biobank	rs137852751
1000 genomes	rs137852751
hgdp	rs137852751
ensembl	rs137852751
geneview	rs137852751
scholar	rs137852751
google	rs137852751
pharmgkb	rs137852751
gwascentral	rs137852751
openSNP	rs137852751
23andMe	rs137852751
SNPshot	rs137852751
SNPdbe	rs137852751
MSV3d	rs137852751
GWAS Ctlg	rs137852751

Max Magnitude

6.2

aka c.994C>T (p.Arg332Ter)

23andMe name: i5005638

OMIM	600799
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137852751(T;T)
Alt	rs137852751(T;T)
Reference	Rs137852751(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203395543C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009355.4,