rs137852746

Orientation

plus

Stabilized

plus

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

Make rs137852746(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202552773

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852746
dbSNP (classic)	rs137852746
ClinGen	rs137852746
ebi	rs137852746
HLI	rs137852746
Exac	rs137852746
Gnomad	rs137852746
Varsome	rs137852746
LitVar	rs137852746
Map	rs137852746
PheGenI	rs137852746
Biobank	rs137852746
1000 genomes	rs137852746
hgdp	rs137852746
ensembl	rs137852746
geneview	rs137852746
scholar	rs137852746
google	rs137852746
pharmgkb	rs137852746
gwascentral	rs137852746
openSNP	rs137852746
23andMe	rs137852746
SNPshot	rs137852746
SNPdbe	rs137852746
MSV3d	rs137852746
GWAS Ctlg	rs137852746

Max Magnitude

6.2

aka c.1471C>T (p.Arg491Trp)

23andMe name: i5005632

OMIM	600799
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852746(T;T)
Alt	rs137852746(T;T)
Reference	Rs137852746(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension not provided
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension not provided
Reversed	0
HGVS	NC_000002.11:g.203417496C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009347.4, RCV000493405.1,