rs137852748

Orientation

plus

Stabilized

plus

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

Make rs137852748(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

202556282

Gene

BMPR2

is a	snp
is	mentioned by
dbSNP	rs137852748
dbSNP (classic)	rs137852748
ClinGen	rs137852748
ebi	rs137852748
HLI	rs137852748
Exac	rs137852748
Gnomad	rs137852748
Varsome	rs137852748
LitVar	rs137852748
Map	rs137852748
PheGenI	rs137852748
Biobank	rs137852748
1000 genomes	rs137852748
hgdp	rs137852748
ensembl	rs137852748
geneview	rs137852748
scholar	rs137852748
google	rs137852748
pharmgkb	rs137852748
gwascentral	rs137852748
openSNP	rs137852748
23andMe	rs137852748
SNPshot	rs137852748
SNPdbe	rs137852748
MSV3d	rs137852748
GWAS Ctlg	rs137852748

Max Magnitude

6.2

aka c.2617C>T (p.Arg873Ter)

23andMe name: i5005634

OMIM	600799
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137852748(T;T)
Alt	rs137852748(T;T)
Reference	Rs137852748(C;C)
Significance	Pathogenic
Disease	Primary pulmonary hypertension
Variation	info
Gene	BMPR2
CLNDBN	Primary pulmonary hypertension
Reversed	0
HGVS	NC_000002.11:g.203421005C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009350.3,